ClinVar Miner

Variants from Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Location: Brazil  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
738 1039 2904 108 23 4808

Gene and significance breakdown #

Total genes and gene combinations: 1939
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANKRD11 5 20 11 0 0 36
BRCA2 10 4 17 0 1 32
TTN 1 7 14 3 0 25
HIVEP2 0 2 18 2 0 22
ARID1B 0 14 5 1 0 20
KMT2A 2 9 9 0 0 20
KMT2C 0 1 17 1 0 19
NSD1 4 9 6 0 0 19
SETD5 2 11 6 0 0 19
NBEA 0 2 15 1 0 18
CHD8 0 3 14 0 0 17
COL7A1 10 5 2 0 0 17
PALB2 5 1 11 0 0 17
SPEN 0 3 13 1 0 17
BRCA1 13 1 2 0 0 16
MSH6 1 4 11 0 0 16
NF1 8 7 1 0 0 16
NIPBL 0 4 11 1 0 16
POGZ 0 5 11 0 0 16
ATM 4 3 8 0 0 15
COL1A2 3 10 2 0 0 15
SYNGAP1 1 3 10 1 0 15
APC 6 1 7 0 0 14
ASH1L 0 0 13 1 0 14
HUWE1 0 0 14 0 0 14
MSH2 4 2 8 0 0 14
NLRP12 0 2 12 0 0 14
PKD1 5 2 7 0 0 14
PAH 8 3 2 0 0 13
ASXL3 2 2 8 0 0 12
EFTUD2 1 6 5 0 0 12
EHMT1 3 1 8 0 0 12
KAT6A 0 4 7 1 0 12
LRBA 0 3 9 0 0 12
RERE 0 2 9 0 1 12
RYR1 1 3 7 1 0 12
ARFGEF1 0 1 10 0 0 11
BPTF 0 1 10 0 0 11
CACNA1I 0 0 11 0 0 11
CCDST, FLG 6 3 2 0 0 11
FBN1 1 5 5 0 0 11
HECW2 0 0 11 0 0 11
KMT2D 1 2 8 0 0 11
POLR2A 0 0 11 0 0 11
ZNF462 0 0 11 0 0 11
CACNA1A 0 2 8 0 0 10
CFTR 6 0 4 0 0 10
CHD3 0 0 10 0 0 10
CIC 0 0 8 2 0 10
COL6A3 0 0 9 1 0 10
KDM4B 0 1 9 0 0 10
MED13L 1 1 8 0 0 10
NAA15 1 5 4 0 0 10
PKHD1 6 1 3 0 0 10
WDFY3 0 5 2 3 0 10
​intergenic 6 3 0 0 0 9
ALMS1 4 1 4 0 0 9
AUTS2 0 2 7 0 0 9
BARD1 2 0 7 0 0 9
CHD5 0 0 9 0 0 9
DYNC1H1 0 1 8 0 0 9
ECHS1 1 3 5 0 0 9
GLDC 2 3 4 0 0 9
HERC1 0 2 7 0 0 9
HMMR 0 0 9 0 0 9
IRF2BPL 0 2 7 0 0 9
MACF1 0 1 8 0 0 9
MBD5 0 0 6 3 0 9
MECP2 7 0 2 0 0 9
NFKB1 0 3 6 0 0 9
PMM2 8 0 1 0 0 9
SACS 3 3 3 0 0 9
SCN2A 1 2 6 0 0 9
SMARCC2 0 1 8 0 0 9
SON 1 3 4 1 0 9
SPTAN1 0 0 9 0 0 9
STXBP1 2 3 4 0 0 9
TRIO 0 2 7 0 0 9
ZNF292 0 2 7 0 0 9
ARID2 0 0 7 1 0 8
ASPM 5 2 1 0 0 8
ATRX 1 0 6 0 1 8
BRPF1 0 2 6 0 0 8
CHD1 0 0 8 0 0 8
CHD7 2 0 6 0 0 8
COL1A1 1 3 3 1 0 8
COL4A5 3 4 1 0 0 8
DLL1 0 1 7 0 0 8
FBXO11 0 1 7 0 0 8
GALC 1 3 4 0 0 8
KCNT1 2 1 4 1 0 8
LAMA2 6 1 1 0 0 8
MAPK8IP3 0 1 7 0 0 8
MLH1 5 1 2 0 0 8
PIEZO2 0 5 3 0 0 8
PTEN 2 2 4 0 0 8
PTPN11 7 0 1 0 0 8
RAD50 1 3 4 0 0 8
SCN8A 1 2 5 0 0 8
SPTBN1 0 1 7 0 0 8
SRRM2 0 2 6 0 0 8
TCF20 1 1 5 1 0 8
TNFRSF13B 0 3 5 0 0 8
ANKRD17 0 1 6 0 0 7
ATM, C11orf65 2 2 3 0 0 7
BBS1, ZDHHC24 2 4 1 0 0 7
CDK13 0 0 7 0 0 7
CNOT3 0 0 7 0 0 7
COL11A1 0 2 5 0 0 7
CREBBP 0 1 6 0 0 7
DDX3X 0 4 3 0 0 7
DOCK8 0 1 6 0 0 7
FANCA 3 1 3 0 0 7
FRMPD4 0 0 7 0 0 7
HNRNPU 1 5 1 0 0 7
HYDIN 1 2 4 0 0 7
INTS1 0 2 5 0 0 7
IQSEC2 0 1 6 0 0 7
KCNT2 0 0 7 0 0 7
KDM3B 0 1 6 0 0 7
LAMA1 0 2 4 1 0 7
MED13 0 0 7 0 0 7
MMUT 4 1 2 0 0 7
MPEG1 0 0 7 0 0 7
MUTYH 4 1 2 0 0 7
NSD2 0 2 5 0 0 7
PHF8 0 3 4 0 0 7
POLG 3 2 2 0 0 7
SIN3A 1 2 4 0 0 7
SOX6 0 0 7 0 0 7
TBR1 0 0 7 0 0 7
TNRC6B 0 3 4 0 0 7
TP53 2 2 3 0 0 7
WAC 0 3 4 0 0 7
WFS1 4 3 0 0 0 7
ADNP 1 1 3 1 0 6
AHDC1 0 2 3 1 0 6
ATP1A3 3 0 3 0 0 6
BICRA 0 0 6 0 0 6
BRIP1 1 2 3 0 0 6
CACNA1C 0 0 6 0 0 6
CAMTA1 0 0 6 0 0 6
CDKL5 0 4 2 0 0 6
CHD4 0 0 6 0 0 6
DARS2 2 2 2 0 0 6
EP300 0 2 1 1 2 6
GRIN2A 0 2 4 0 0 6
HDAC4 0 0 6 0 0 6
HERC2 0 1 5 0 0 6
KAT6B 1 3 2 0 0 6
LZTR1 2 4 0 0 0 6
MAGEL2 1 2 3 0 0 6
MED12 0 0 6 0 0 6
MED12L 0 0 6 0 0 6
MMACHC 3 0 3 0 0 6
MVK 1 4 1 0 0 6
NRROS 0 2 4 0 0 6
PHKB 2 1 3 0 0 6
PLA2G6 1 1 4 0 0 6
PLEC 0 0 4 2 0 6
PLOD1 0 4 2 0 0 6
PTCH1 0 0 6 0 0 6
RFX7 0 2 4 0 0 6
SLC35A2 0 0 6 0 0 6
SLC6A8 0 2 3 1 0 6
SNHG14, UBE3A 0 1 5 0 0 6
SPAST 3 0 3 0 0 6
SYNE2 0 0 6 0 0 6
TANC2 0 1 5 0 0 6
TBCD 0 0 6 0 0 6
TUBGCP6 1 2 3 0 0 6
USP7 0 1 5 0 0 6
XIAP 1 3 2 0 0 6
ZMYM2 0 4 2 0 0 6
ABCC6 2 2 1 0 0 5
ALDOB 3 0 2 0 0 5
ALPL 2 3 0 0 0 5
ANK3 0 1 3 1 0 5
ASXL2 0 1 3 1 0 5
ATP7B 2 1 2 0 0 5
BBS10 1 2 2 0 0 5
BLM 2 0 3 0 0 5
BTK 3 2 0 0 0 5
CACNA1B 0 1 4 0 0 5
CDC42BPB 0 0 5 0 0 5
CHEK2 2 1 2 0 0 5
COL5A1 1 0 4 0 0 5
CRTAP 2 2 1 0 0 5
CUX2 0 0 5 0 0 5
DOCK2 0 0 5 0 0 5
DPYSL5 0 0 5 0 0 5
EBF3 0 1 4 0 0 5
ECEL1 2 0 3 0 0 5
EFNB1 1 2 1 1 0 5
ETFDH 1 1 3 0 0 5
FANCE 2 2 1 0 0 5
FLNA 0 0 5 0 0 5
FOXP3 0 1 4 0 0 5
FRAS1 3 1 1 0 0 5
GAA 3 0 2 0 0 5
GALT 4 0 1 0 0 5
GJA8 0 1 4 0 0 5
GLB1 4 0 1 0 0 5
HCFC1 0 0 4 1 0 5
HEXB 0 4 1 0 0 5
IGF1R 0 0 5 0 0 5
IL12RB1 2 2 1 0 0 5
KANSL1 0 1 4 0 0 5
KCNB1 0 1 4 0 0 5
KDM5B 1 3 1 0 0 5
KDM6A 0 1 4 0 0 5
KMT2E 0 1 4 0 0 5
LDLR 2 1 2 0 0 5
LOC102724058, SCN1A 0 1 4 0 0 5
MCCC1 0 2 3 0 0 5
MYT1L 0 1 4 0 0 5
NDUFS1 0 2 3 0 0 5
NEB 0 1 3 1 0 5
NFKB2 0 0 5 0 0 5
OPA1 2 2 1 0 0 5
PHKA2 0 0 5 0 0 5
PIGN 2 2 1 0 0 5
PLCE1 2 2 1 0 0 5
POLD1 1 0 4 0 0 5
POLE 0 0 5 0 0 5
POLR3B 1 1 3 0 0 5
PSMD12 0 1 4 0 0 5
PUF60 0 5 0 0 0 5
PYGM 4 1 0 0 0 5
RAI1 0 0 4 1 0 5
RET 1 2 2 0 0 5
RNF43 0 1 4 0 0 5
SCN1A 0 3 2 0 0 5
SETD1B 0 1 4 0 0 5
SHANK3 1 1 3 0 0 5
SKI 0 0 5 0 0 5
SMAD3 0 2 3 0 0 5
SOX11 0 0 5 0 0 5
SPG7 3 1 1 0 0 5
SPTBN2 0 0 5 0 0 5
SQSTM1 1 0 4 0 0 5
SRCAP 1 0 4 0 0 5
TNXB 0 1 4 0 0 5
TRIP12 0 0 5 0 0 5
TRRAP 0 0 5 0 0 5
USH2A 2 1 2 0 0 5
VPS13A 0 1 4 0 0 5
WBP11 0 2 3 0 0 5
WDR37 0 0 5 0 0 5
WT1 2 2 1 0 0 5
XPC 2 2 1 0 0 5
ABCB4 1 0 3 0 0 4
ACADM 1 0 3 0 0 4
ACADS 1 1 2 0 0 4
ACAN 0 2 2 0 0 4
AFF4 0 0 4 0 0 4
AGRN 0 0 3 1 0 4
ALPK1 0 0 4 0 0 4
ARID1A 0 0 4 0 0 4
ATRIP, ATRIP-TREX1, TREX1 1 0 3 0 0 4
BACH2 0 0 4 0 0 4
BCORL1 0 0 2 1 1 4
BCS1L 2 0 2 0 0 4
BTD 3 1 0 0 0 4
CACNA1D 0 0 4 0 0 4
CACNA1H 0 0 2 2 0 4
CAPN15 0 1 3 0 0 4
CD40LG 1 3 0 0 0 4
CDK19 0 0 4 0 0 4
CLCN2 0 0 4 0 0 4
CLCN4 0 0 4 0 0 4
CNKSR2 0 0 4 0 0 4
CNOT1 1 0 3 0 0 4
CPLANE1 1 1 2 0 0 4
CSNK2B 1 0 3 0 0 4
DHCR7 2 2 0 0 0 4
DNM1L 0 0 4 0 0 4
DYNC2H1 0 1 3 0 0 4
DYRK1A 0 2 2 0 0 4
EARS2 0 0 4 0 0 4
ERMARD 0 0 4 0 0 4
EYS 2 0 1 1 0 4
FANCD2, LOC107303338 0 2 2 0 0 4
FBN2 0 1 3 0 0 4
FKBP10 1 2 1 0 0 4
GFM2 0 2 2 0 0 4
GJB2 4 0 0 0 0 4
GLI2 0 1 2 1 0 4
HBB, LOC106099062, LOC107133510 3 1 0 0 0 4
HNRNPK 0 1 3 0 0 4
HSPG2 0 1 1 2 0 4
HYLS1, PUS3 0 0 4 0 0 4
IFIH1 0 0 4 0 0 4
IRAK1BP1, PHIP 0 1 3 0 0 4
ITGB2 2 1 1 0 0 4
KCNQ2 0 3 1 0 0 4
KDM6B 1 0 3 0 0 4
KMT5B 0 0 4 0 0 4
LHCGR, STON1-GTF2A1L 0 3 1 0 0 4
LPIN1 1 2 1 0 0 4
MYH7 0 2 2 0 0 4
NEB, RIF1 2 2 0 0 0 4
NEXMIF 1 1 2 0 0 4
NFIX 1 1 2 0 0 4
OPHN1 0 2 1 1 0 4
PACS1 1 0 3 0 0 4
PCCA 1 1 2 0 0 4
PHF6 1 0 3 0 0 4
PLCB4 0 0 4 0 0 4
POLRMT 0 0 4 0 0 4
PORCN 1 2 1 0 0 4
POU3F3 0 0 4 0 0 4
PQBP1 2 0 2 0 0 4
RAD51D, RAD51L3-RFFL 1 0 3 0 0 4
RELN 0 0 4 0 0 4
RIPK1 0 2 2 0 0 4
RTTN 0 2 2 0 0 4
SCN3A 0 0 4 0 0 4
SCN5A 0 1 3 0 0 4
SETX 0 0 3 1 0 4
SHANK2 0 1 3 0 0 4
SOX4 0 0 4 0 0 4
SPG11 0 2 2 0 0 4
SPINK5 2 2 0 0 0 4
STK11 1 1 2 0 0 4
SYK 0 0 4 0 0 4
TANGO2 1 0 2 0 1 4
TCF4 0 0 4 0 0 4
TCOF1 1 1 2 0 0 4
TET3 0 0 4 0 0 4
THOC2 0 0 4 0 0 4
TNFAIP3 0 1 3 0 0 4
UNC13D 0 1 3 0 0 4
UNC80 1 0 3 0 0 4
WAS 2 2 0 0 0 4
WDR26 0 2 2 0 0 4
ZBTB18 0 0 4 0 0 4
ZEB2 0 2 2 0 0 4
ZMIZ1 0 1 3 0 0 4
ZNF711 0 1 2 0 1 4
ZSWIM6 0 0 4 0 0 4
ABCD1 1 0 2 0 0 3
ACADVL 0 2 1 0 0 3
ACTN4 0 0 3 0 0 3
ACVRL1 0 0 3 0 0 3
ADGRL1 0 0 3 0 0 3
AFF2 0 0 3 0 0 3
AICDA 0 3 0 0 0 3
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 3 0 0 0 0 3
AIRE 2 0 1 0 0 3
ALG13 0 0 3 0 0 3
ALPK3 1 2 0 0 0 3
AMT 0 2 1 0 0 3
ANTXR2 1 2 0 0 0 3
AP4M1 1 1 1 0 0 3
AP4S1 1 1 1 0 0 3
ARHGEF1 0 0 3 0 0 3
ARSA 2 0 1 0 0 3
ARX 0 1 2 0 0 3
ATP6V1B1 1 0 2 0 0 3
BAP1 0 0 3 0 0 3
BCL11A 0 0 3 0 0 3
BCOR 0 1 2 0 0 3
BRAF 2 0 1 0 0 3
BRCA1, LOC126862571 2 0 1 0 0 3
BRWD3 0 1 2 0 0 3
BUB1B 0 1 2 0 0 3
CACNA1E 0 0 3 0 0 3
CACNA1G 0 0 3 0 0 3
CC2D2A 2 0 1 0 0 3
CCDC40 3 0 0 0 0 3
CDCA7 0 0 3 0 0 3
CDH1 0 1 2 0 0 3
CDH15 0 0 3 0 0 3
CHD2 0 0 3 0 0 3
CHD3, LOC126862484 0 0 3 0 0 3
CLASP1, RNU4ATAC 0 0 3 0 0 3
CLCN7 0 0 3 0 0 3
CLN3 2 0 1 0 0 3
CLTC 0 2 1 0 0 3
COASY 0 1 2 0 0 3
COL12A1 0 0 2 1 0 3
COL4A1 0 2 1 0 0 3
COL5A2 0 1 2 0 0 3
COL6A2 0 0 3 0 0 3
COL9A2 0 2 1 0 0 3
COMP 1 0 2 0 0 3
COPA 2 0 1 0 0 3
CTSK 2 0 1 0 0 3
CUBN 0 1 0 0 2 3
CUX1 0 1 2 0 0 3
CYP2U1 2 0 1 0 0 3
DDB1 0 0 3 0 0 3
DDX41 1 2 0 0 0 3
DEAF1 0 1 2 0 0 3
DEPDC5 2 0 1 0 0 3
DHX16 0 0 3 0 0 3
DHX30 0 0 3 0 0 3
DIPK1A, RPL5 0 3 0 0 0 3
DMD 1 1 1 0 0 3
DMXL2 0 1 2 0 0 3
DNAAF19 1 1 1 0 0 3
DNASE1L3 1 0 2 0 0 3
DNMT3B 0 1 2 0 0 3
DSG2 0 1 2 0 0 3
DUOX2 0 1 2 0 0 3
DVL3 0 2 1 0 0 3
DYSF 1 0 2 0 0 3
EDA 0 1 1 0 1 3
EGFR 0 0 3 0 0 3
EPG5 0 1 2 0 0 3
ERBB4 0 0 3 0 0 3
EVC 1 2 0 0 0 3
FAH 1 0 2 0 0 3
FAM20C 0 0 3 0 0 3
FANCA, ZNF276 1 0 2 0 0 3
FGFR1 0 1 2 0 0 3
FGFR2 2 0 1 0 0 3
FGFR3 3 0 0 0 0 3
FOXP1 0 1 2 0 0 3
FPGT-TNNI3K, TNNI3K 0 0 3 0 0 3
GABRB2 0 0 3 0 0 3
GATAD2B 0 1 1 1 0 3
GBE1 0 2 1 0 0 3
GCDH 2 1 0 0 0 3
GCH1 0 0 3 0 0 3
GH-LCR, SCN4A 0 0 3 0 0 3
GNB1 1 0 2 0 0 3
GNE 0 2 0 0 1 3
GPAA1 1 0 2 0 0 3
GRIN2B 0 1 2 0 0 3
H1-4 0 0 3 0 0 3
HDAC8 1 2 0 0 0 3
HEXA 2 1 0 0 0 3
HIBCH 0 1 2 0 0 3
IDS 2 0 1 0 0 3
IKZF1 0 0 3 0 0 3
IKZF3 0 0 3 0 0 3
IL17RA 0 0 3 0 0 3
IL7R 2 1 0 0 0 3
IRF2BPL, LOC107984638 0 0 3 0 0 3
ITK 0 1 2 0 0 3
ITPR1 1 0 0 2 0 3
JAG1 1 2 0 0 0 3
JAK1 0 0 3 0 0 3
JARID2 0 0 3 0 0 3
KATNIP 0 1 2 0 0 3
KCNA2 0 0 3 0 0 3
KCNC3 0 0 3 0 0 3
KCNMA1 0 0 3 0 0 3
KIF11 1 1 1 0 0 3
KIT 0 0 3 0 0 3
L1CAM 0 0 3 0 0 3
LAMB1 0 1 2 0 0 3
LAMB3 2 1 0 0 0 3
LAS1L 0 0 3 0 0 3
LIG3 0 1 2 0 0 3
LOC126861242, NDUFV1 1 0 2 0 0 3
LOC126862264, MEFV 2 0 1 0 0 3
LRP5 0 0 3 0 0 3
MAST1 0 0 2 1 0 3
MED12L, P2RY12 0 1 2 0 0 3
MED25 1 2 0 0 0 3
MEFV 0 0 2 1 0 3
MMP21 1 1 1 0 0 3
MPI 0 3 0 0 0 3
MSH3 0 0 3 0 0 3
MSTO1 2 0 1 0 0 3
MTHFR 1 1 1 0 0 3
MTR 0 0 3 0 0 3
MYBPC3 0 1 2 0 0 3
MYH2, MYHAS 1 0 2 0 0 3
MYO18B 0 1 1 1 0 3
MYO1E 0 0 3 0 0 3
MYO7A 0 0 3 0 0 3
NALCN 0 2 1 0 0 3
NBAS 0 0 3 0 0 3
NDUFV1 0 0 3 0 0 3
NFIB 0 2 1 0 0 3
NLRC4 0 0 3 0 0 3
NOD2 0 0 3 0 0 3
NPC1 2 1 0 0 0 3
NSUN2 0 1 2 0 0 3
NTHL1 0 1 2 0 0 3
OBSCN 0 1 2 0 0 3
OCRL 0 2 1 0 0 3
P3H1 2 0 1 0 0 3
PCNT 0 2 0 1 0 3
PDE2A 0 0 3 0 0 3
PDHA1 1 1 1 0 0 3
PEPD 0 1 2 0 0 3
PGAP1 0 2 1 0 0 3
PGAP3 1 2 0 0 0 3
PHF21A 0 0 3 0 0 3
PIBF1 0 0 3 0 0 3
PIGG 0 1 2 0 0 3
PIK3CD 1 0 2 0 0 3
PKD2 1 1 1 0 0 3
PKLR 2 1 0 0 0 3
PMS2 1 1 1 0 0 3
POLR1A 0 0 2 1 0 3
PPOX 1 1 1 0 0 3
PPP2R5D 0 1 2 0 0 3
PRG4 1 0 0 2 0 3
PRKDC 0 0 3 0 0 3
PRR12 0 1 2 0 0 3
PSMB8 1 1 2 0 0 3
PSTPIP1 0 0 3 0 0 3
PTCH2 0 0 3 0 0 3
PTPN23 0 1 2 0 0 3
RAB3GAP2 1 1 1 0 0 3
RAD54L 0 0 3 0 0 3
RANBP2 0 0 3 0 0 3
RARS2 0 0 3 0 0 3
RASGRP1 0 2 1 0 0 3
RECQL4 0 2 1 0 0 3
RNF213 0 0 3 0 0 3
RORB 1 0 2 0 0 3
RPS6KA3 1 1 1 0 0 3
RTN4IP1 1 0 2 0 0 3
SAMD9L 0 0 2 1 0 3
SCAPER 0 0 3 0 0 3
SETD2 0 0 3 0 0 3
SHOC2 1 0 2 0 0 3
SLC2A1 1 0 2 0 0 3
SLC3A1 1 1 1 0 0 3
SLC9A7 0 0 3 0 0 3
SMARCD1 0 0 3 0 0 3
STAG2 0 0 2 1 0 3
STAT1 1 0 2 0 0 3
STAT3 0 2 1 0 0 3
SURF1 3 0 0 0 0 3
TBCK 2 1 0 0 0 3
TBX6 0 0 3 0 0 3
TGFBR1 1 0 2 0 0 3
TGM1 1 1 1 0 0 3
TGM6 0 0 3 0 0 3
TMEM63A 0 0 3 0 0 3
TMPRSS15 0 1 2 0 0 3
TNFRSF1A 0 1 2 0 0 3
TOE1 0 1 2 0 0 3
TOM1 0 0 3 0 0 3
TRPV4 0 1 2 0 0 3
TYK2 0 0 3 0 0 3
UBAP1 0 1 2 0 0 3
UGDH 0 0 3 0 0 3
VARS1 0 2 1 0 0 3
VARS2 1 0 2 0 0 3
VHL 1 1 1 0 0 3
WDR45 1 0 2 0 0 3
WWOX 0 1 2 0 0 3
ZBTB20 0 0 3 0 0 3
ABCA2 0 0 2 0 0 2
ABCA5 0 1 0 0 1 2
ABCD1, PLXNB3 1 0 1 0 0 2
ACAD9, CFAP92 0 2 0 0 0 2
ACBD6, LHX4 0 1 1 0 0 2
ACTB 0 1 1 0 0 2
ACTG1 0 2 0 0 0 2
ACTL6B 0 1 1 0 0 2
ADA2 1 0 1 0 0 2
ADAM22 0 0 1 1 0 2
ADAMTS18 0 1 1 0 0 2
ADAMTS2 0 0 2 0 0 2
ADARB1 0 0 2 0 0 2
ADCY3 0 0 2 0 0 2
ADPRS 0 1 1 0 0 2
ALDH18A1 0 1 1 0 0 2
ALDH7A1 2 0 0 0 0 2
ALG2 0 0 1 1 0 2
ALG8 1 0 1 0 0 2
ALK 1 0 1 0 0 2
AMER1 0 0 2 0 0 2
ANK1 0 0 2 0 0 2
ANKLE2 0 0 0 2 0 2
ANKRD26 1 0 1 0 0 2
ANO10 0 0 2 0 0 2
AOPEP, FANCC 2 0 0 0 0 2
AP2M1 0 0 2 0 0 2
APC2 0 0 2 0 0 2
AR 0 2 0 0 0 2
ARCN1 0 0 2 0 0 2
ARFGEF2 0 0 2 0 0 2
ARG1, MED23 1 1 0 0 0 2
ARHGAP31 0 0 2 0 0 2
ARID1B, LOC115308161 0 1 0 1 0 2
ARSL 0 1 1 0 0 2
ASL 2 0 0 0 0 2
ASPH 1 1 0 0 0 2
ASXL1 1 0 1 0 0 2
ATN1 0 0 1 0 1 2
ATP13A2 0 0 2 0 0 2
ATP1A2 0 0 2 0 0 2
ATP2A1 0 0 2 0 0 2
ATP6AP1 0 1 1 0 0 2
ATP6AP2 0 0 2 0 0 2
ATP7A 0 0 1 0 1 2
ATP9A 0 1 1 0 0 2
ATPAF2, LOC130060409 0 0 2 0 0 2
ATR 0 0 2 0 0 2
ATXN7L3, UBTF 1 0 1 0 0 2
AXIN2 0 0 2 0 0 2
B3GLCT 1 0 1 0 0 2
BBS12 2 0 0 0 0 2
BBS2 0 1 1 0 0 2
BCKDHB 1 1 0 0 0 2
BICD2 0 1 1 0 0 2
BRF1 0 0 2 0 0 2
C3 0 2 0 0 0 2
CACNA1S 0 0 2 0 0 2
CAD 0 0 2 0 0 2
CAPN1 2 0 0 0 0 2
CARD11 1 0 1 0 0 2
CARD8 0 0 2 0 0 2
CASK 0 0 2 0 0 2
CAST 0 1 1 0 0 2
CBLIF 1 1 0 0 0 2
CCDC22 0 0 2 0 0 2
CCNK 0 0 2 0 0 2
CCNO 0 1 1 0 0 2
CCNO, LOC129993895 2 0 0 0 0 2
CD3G 0 2 0 0 0 2
CDH23 0 0 2 0 0 2
CDHR1 0 0 2 0 0 2
CDK13, LOC129998293 0 0 2 0 0 2
CEP250 2 0 0 0 0 2
CHROMR, PRKRA 1 0 1 0 0 2
CHST14 0 0 2 0 0 2
CHST3 0 1 1 0 0 2
CLCN6 0 0 2 0 0 2
CLN6 0 1 1 0 0 2
CNGA1, LOC101927157 0 2 0 0 0 2
CNGB1 0 1 1 0 0 2
COA6 0 2 0 0 0 2
COG5 0 0 2 0 0 2
COG7 0 0 2 0 0 2
COL11A2 1 1 0 0 0 2
COL17A1 0 2 0 0 0 2
COL18A1 1 1 0 0 0 2
COL3A1 0 0 2 0 0 2
COLEC11 0 0 2 0 0 2
COLQ 0 0 2 0 0 2
COQ7 0 2 0 0 0 2
CPAP 2 0 0 0 0 2
CPT1C 0 0 2 0 0 2
CPT2 1 1 0 0 0 2
CR2, LOC126805994 0 0 2 0 0 2
CRPPA 0 0 2 0 0 2
CSNK2A1 0 1 1 0 0 2
CTLA4 0 2 0 0 0 2
CUL7 1 0 1 0 0 2
CYBB 0 0 2 0 0 2
CYFIP2 0 0 2 0 0 2
CYP19A1, MIR4713HG, PIRC66 0 1 1 0 0 2
CYP1B1 2 0 0 0 0 2
CYP21A2, LOC106780800 0 0 2 0 0 2
CYP27A1 2 0 0 0 0 2
DCTN1 0 0 2 0 0 2
DDC 0 2 0 0 0 2
DDX11 0 1 1 0 0 2
DGUOK 1 0 1 0 0 2
DHDDS 0 0 2 0 0 2
DIP2B 0 0 2 0 0 2
DNAAF4, DNAAF4-CCPG1 0 2 0 0 0 2
DNAH11 0 1 0 1 0 2
DNAH5 1 0 1 0 0 2
DNAI1 1 0 1 0 0 2
DNM1 0 1 1 0 0 2
DNMT3A 0 2 0 0 0 2
DPF2 0 0 2 0 0 2
DPYS 0 1 1 0 0 2
DYNC2I1 0 0 2 0 0 2
EEF1A2 0 0 2 0 0 2
EIF2B2 2 0 0 0 0 2
ELANE 0 2 0 0 0 2
ELF4 0 0 2 0 0 2
ELN 0 0 1 0 1 2
ENG 0 0 2 0 0 2
EPB41L1 0 0 2 0 0 2
ERCC2 0 2 0 0 0 2
ERCC4 0 0 2 0 0 2
ERCC6 1 0 1 0 0 2
ESRRB 0 0 2 0 0 2
ETFA 0 1 1 0 0 2
EXOSC3 2 0 0 0 0 2
EXOSC5 0 1 1 0 0 2
EXOSC9 0 1 1 0 0 2
EXT1 1 1 0 0 0 2
F8 0 1 1 0 0 2
FAN1, MTMR10 0 2 0 0 0 2
FANCG 1 1 0 0 0 2
FANCI 0 1 1 0 0 2
FANCM 1 0 1 0 0 2
FASTKD2 0 1 1 0 0 2
FDXR 0 1 1 0 0 2
FIG4 0 0 2 0 0 2
FKTN 0 1 1 0 0 2
FLNB 0 0 2 0 0 2
FMO3 0 1 1 0 0 2
FOXL2 0 0 2 0 0 2
FOXN1 0 1 0 1 0 2
FOXRED1 0 1 1 0 0 2
FRA10AC1 0 1 1 0 0 2
FRMD5 0 0 2 0 0 2
FUT8 0 0 2 0 0 2
GABBR2 0 0 2 0 0 2
GABRA5 0 0 2 0 0 2
GABRD 0 0 2 0 0 2
GABRG2 1 0 1 0 0 2
GALE 0 2 0 0 0 2
GAN 0 2 0 0 0 2
GAREM2, HADHA 2 0 0 0 0 2
GATA5 0 0 2 0 0 2
GBA1, LOC106627981 1 0 1 0 0 2
GBA2 0 0 2 0 0 2
GDF5 0 2 0 0 0 2
GFAP 1 0 1 0 0 2
GHSR 0 1 1 0 0 2
GIGYF2 0 0 2 0 0 2
GLMN 1 1 0 0 0 2
GLUD1 0 0 2 0 0 2
GMPPB 0 0 2 0 0 2
GNAS 0 2 0 0 0 2
GRIA2 0 0 2 0 0 2
GRIA4 0 0 2 0 0 2
GRID2 0 0 1 1 0 2
GRIN1 0 0 2 0 0 2
GRM1 0 0 1 1 0 2
GUCY2C 0 0 2 0 0 2
GYS2 1 1 0 0 0 2
HFE 1 0 1 0 0 2
HGD 0 0 2 0 0 2
HSD17B3, SLC35D2-HSD17B3 1 0 1 0 0 2
HYOU1, LOC130006884 0 0 2 0 0 2
IDUA 2 0 0 0 0 2
IFT140 0 2 0 0 0 2
IFT52 0 0 2 0 0 2
INAVA 0 0 1 1 0 2
IRF2BP2 0 1 1 0 0 2
JAK3 0 0 1 1 0 2
KAT5 0 0 2 0 0 2
KCNH1 0 1 1 0 0 2
KCNH2 0 2 0 0 0 2
KCNQ3 1 1 0 0 0 2
KCNQ5 0 0 2 0 0 2
KDM1A 0 0 2 0 0 2
KDM5C 0 1 1 0 0 2
KIF1A 0 0 2 0 0 2
KIF22 1 0 1 0 0 2
KIRREL1 0 0 2 0 0 2
KMT2B 0 1 0 0 1 2
KPTN 0 1 1 0 0 2
KRT14 2 0 0 0 0 2
LGI1 0 1 1 0 0 2
LIG1 0 1 1 0 0 2
LIG4 1 0 1 0 0 2
LMBRD2 0 0 2 0 0 2
LOC101928335, MID2 0 0 2 0 0 2
LOC105371856, TANC2 0 0 2 0 0 2
LOC108281177, SOX2, SOX2-OT 2 0 0 0 0 2
LOC126806798, ZNF148 0 1 1 0 0 2
LOC126859827, TAB2 0 2 0 0 0 2
LOC126860121, TRRAP 0 0 2 0 0 2
LOC126862500, MYH2, MYHAS 0 1 1 0 0 2
LOC130065345, PANK2 1 1 1 0 0 2
LRP2 0 2 0 0 0 2
LRRK1 1 0 1 0 0 2
LRRK2 0 1 1 0 0 2
LYST 0 1 1 0 0 2
MADD 0 0 2 0 0 2
MAF, WWOX 0 1 1 0 0 2
MAN1B1 0 2 0 0 0 2
MAP2K2 0 0 2 0 0 2
MAP3K1 0 0 2 0 0 2
MCOLN1 0 0 2 0 0 2
MCPH1 0 1 1 0 0 2
MEN1 1 0 1 0 0 2
MET 0 0 2 0 0 2
MLH3 0 0 2 0 0 2
MMAA 1 0 1 0 0 2
MMADHC 0 0 2 0 0 2
MORC2 0 1 1 0 0 2
MRE11 0 0 2 0 0 2
MTFMT 2 0 0 0 0 2
MTHFD1 0 1 1 0 0 2
MVP-DT, PRRT2 1 0 1 0 0 2
MYH3 1 1 0 0 0 2
MYLK2 0 0 2 0 0 2
MYO15A 0 1 1 0 0 2
MYO9A 0 0 2 0 0 2
NAA10 1 1 0 0 0 2
NAGLU 0 1 1 0 0 2
NARS1 0 1 1 0 0 2
NARS2 1 0 1 0 0 2
NAXD 0 1 1 0 0 2
NBN 1 0 1 0 0 2
NDUFAF5 0 1 1 0 0 2
NDUFB8 0 0 2 0 0 2
NFE2L2 0 0 2 0 0 2
NFIA 0 0 2 0 0 2
NFKBIA 0 0 2 0 0 2
NHS 0 0 2 0 0 2
NIPAL4 1 0 1 0 0 2
NLRP1 0 0 2 0 0 2
NOTCH2 0 1 0 1 0 2
NPHS1 0 2 0 0 0 2
NRXN1 0 0 2 0 0 2
NTRK2 0 0 2 0 0 2
OBSL1 1 0 1 0 0 2
OPLAH 0 0 2 0 0 2
ORC1 0 1 1 0 0 2
ORC4 0 0 2 0 0 2
P3H2 0 1 1 0 0 2
PAX2 1 1 0 0 0 2
PCDH12, RNF14 0 1 1 0 0 2
PCDH19 0 1 1 0 0 2
PDE11A 0 0 2 0 0 2
PDE4D 0 0 2 0 0 2
PDGFRB 0 0 2 0 0 2
PDSS1 0 0 2 0 0 2
PDZD9, UQCRC2 0 0 2 0 0 2
PEX11B 0 1 1 0 0 2
PIDD1 1 1 0 0 0 2
PIGM 0 0 2 0 0 2
PIK3C2A 0 2 0 0 0 2
PIK3CG 0 0 2 0 0 2
PKD1L1 0 1 1 0 0 2
PLCB1 0 0 1 1 0 2
PLCG2 0 0 2 0 0 2
PLOD2 0 1 1 0 0 2
PLP1, RAB9B 0 0 2 0 0 2
PMPCB 0 0 2 0 0 2
PNPLA8 0 2 0 0 0 2
POLH 0 2 0 0 0 2
POLR3A 1 1 0 0 0 2
POLR3B, RFX4 0 0 2 0 0 2
PPP1R12A 0 1 1 0 0 2
PPP3CA 0 1 1 0 0 2
PPT1 1 1 0 0 0 2
PRF1 0 0 2 0 0 2
PRKCG 0 0 2 0 0 2
PTDSS1 0 0 2 0 0 2
PURA 0 2 0 0 0 2
PUS7 0 2 0 0 0 2
PXDN 0 1 1 0 0 2
RAB27A 1 1 0 0 0 2
RAC3 0 0 2 0 0 2
RAF1 0 1 0 1 0 2
RB1 0 2 0 0 0 2
RBCK1 0 1 1 0 0 2
RBMX 0 0 2 0 0 2
RELN, SLC26A5 0 0 2 0 0 2
RNASEH2A 0 1 1 0 0 2
RNASEH2B 2 0 0 0 0 2
RNF168 0 1 1 0 0 2
RNF2 0 0 2 0 0 2
RORA 0 1 1 0 0 2
RPS26 0 0 2 0 0 2
RTN2 0 0 2 0 0 2
SASH3 1 1 0 0 0 2
SATB2 1 1 0 0 0 2
SBDS 1 1 0 0 0 2
SBF1 0 1 1 0 0 2
SDHA 0 0 2 0 0 2
SEC23B 0 0 2 0 0 2
SELENON 1 0 1 0 0 2
SERPINF1 0 2 0 0 0 2
SET 0 1 1 0 0 2
SETBP1 0 0 2 0 0 2
SETD1A 0 1 1 0 0 2
SGCA 1 0 1 0 0 2
SHROOM4 0 0 1 1 0 2
SIX1 0 0 2 0 0 2
SLC12A5 0 0 2 0 0 2
SLC13A5 0 0 2 0 0 2
SLC19A3 0 1 1 0 0 2
SLC1A2 0 0 2 0 0 2
SLC22A5 0 0 2 0 0 2
SLC25A12 0 1 1 0 0 2
SLC37A4 2 0 0 0 0 2
SLC46A1 0 0 2 0 0 2
SLC52A2 0 1 1 0 0 2
SLC5A1 1 1 0 0 0 2
SLC7A9 2 0 0 0 0 2
SLITRK2 0 0 2 0 0 2
SLX4 0 0 2 0 0 2
SMAD4 1 0 1 0 0 2
SMARCA4 0 0 2 0 0 2
SMC3 0 1 1 0 0 2
SMCHD1 0 0 2 0 0 2
SMPD1 1 1 0 0 0 2
SORD 1 0 1 0 0 2
SOS1 1 0 1 0 0 2
SOS2 0 0 2 0 0 2
SOX5 0 1 1 0 0 2
SPTA1 0 1 1 0 0 2
STAG1 0 1 1 0 0 2
STAT5B 2 0 0 0 0 2
SUCLA2 0 1 1 0 0 2
SUMF1 0 0 2 0 0 2
SUPT16H 0 0 2 0 0 2
TAOK1 0 1 1 0 0 2
TAOK2 0 0 2 0 0 2
TECPR2 0 0 1 1 0 2
TGFB2 1 0 1 0 0 2
TLK2 0 0 2 0 0 2
TMEM106B 0 0 2 0 0 2
TMEM67 0 0 2 0 0 2
TMTC3 0 1 1 0 0 2
TRAF7 0 0 2 0 0 2
TRAPPC12 0 0 2 0 0 2
TSC2 0 0 2 0 0 2
TSFM 0 0 2 0 0 2
TSPAN7 0 0 2 0 0 2
TTR 2 0 0 0 0 2
TUBB2A 0 1 1 0 0 2
TUBB4A 0 0 2 0 0 2
UNC45A 0 0 2 0 0 2
VLDLR 0 0 2 0 0 2
VPS13B 0 2 0 0 0 2
VPS13D 0 0 2 0 0 2
VPS33B 1 1 0 0 0 2
WASHC4 0 0 2 0 0 2
WDR62 0 1 1 0 0 2
WDR73 1 1 0 0 0 2
XRCC2 0 1 1 0 0 2
YWHAG 0 0 2 0 0 2
ZBTB7A 0 0 2 0 0 2
ZC4H2 1 0 1 0 0 2
ZDHHC9 0 0 2 0 0 2
ZFHX3 0 1 1 0 0 2
ZFHX4 0 0 2 0 0 2
ZFYVE26 0 0 1 1 0 2
ZIC2 0 0 2 0 0 2
ZMYND10 0 1 1 0 0 2
ZNF469 0 0 2 0 0 2
ZNF699 0 1 1 0 0 2
ZNFX1 0 0 2 0 0 2
A2ML1 0 0 1 0 0 1
ABAT 0 1 0 0 0 1
ABCA12 0 1 0 0 0 1
ABCA3 1 0 0 0 0 1
ABCA7 0 0 1 0 0 1
ABCC8 0 0 1 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM223A, FAM223B, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IL9R, IRAK1, L1CAM, LAGE3, LOC101927830, LOC105373383, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107181288, LOC107522039, LOC107838685, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC111365170, LOC111589209, LOC113875014, LOC113875015, LOC113875016, LOC116309161, LOC116309162, LOC121627985, LOC121627986, LOC121853071, LOC121853072, LOC125467793, LOC125467794, LOC125467795, LOC126863349, LOC129929050, LOC129929051, LOC129929052, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR664B, MIR6858, MIR718, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNA3, PLXNB3, PNCK, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SNORA36A, SNORA56, SNORA70, SPRY3, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VAMP7, VBP1 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC107986742, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586 1 0 0 0 0 1
ABL1 0 0 1 0 0 1
ABRACL, AHI1, AHI1-DT, ALDH8A1, ARFGEF3, BCLAF1, CCDC28A, CITED2, ECT2L, FILNC1, GJE1, HBS1L, HEBP2, HECA, IFNGR1, IL20RA, IL22RA2, LINC01625, LINC02524, LINC02539, LINC02865, LINC02941, LINC03004, LOC101928373, LOC102723690, LOC103352541, LOC108169207, LOC110121073, LOC110121174, LOC111413040, LOC111589214, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132708, LOC121740667, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC128669075, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129389666, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132090769, LOC132090770, MAP3K5, MAP7, MIR3145, MIR3662, MIR3668, MIR4465, MIR548A2, MTFR2, MYB, NHEG1, NHSL1, NMBR, OLIG3, PBOV1, PDE7B, PERP, PEX7, REPS1, SIMALR, SLC35D3, SMIM28, TNFAIP3, TXLNB, VTA1, WAKMAR2 1 0 0 0 0 1
ABRAXAS1 0 0 1 0 0 1
ACAD8 0 0 1 0 0 1
ACAD9 1 0 0 0 0 1
ACADSB 0 1 0 0 0 1
ACADVL, DLG4 0 0 1 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CCNL2, CDK11A, CDK11B, CPTP, DVL1, FAM41C, FAM87B, FNDC10, GNB1, HES4, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112577469, LOC115801415, LOC121677382, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23B, MRPL20, MRPL20-DT, MXRA8, NADK, NOC2L, PERM1, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM278, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 1
ACBD5 0 0 1 0 0 1
ACP5 1 0 0 0 0 1
ACSL4 0 0 1 0 0 1
ACTA1 0 0 1 0 0 1
ACTG2 0 1 0 0 0 1
ACVR1 1 0 0 0 0 1
ADA 0 0 1 0 0 1
ADAMTS18, LOC126862407, LOC126862408, LOC132090415 0 1 0 0 0 1
ADAMTS3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ART3, BMP2K, BMP2K-DT, BMP3, BTC, CABS1, CCDC158, CCNG2, CCNI, CDKL2, CFAP299, CNOT6L, COX18, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DCK, ENAM, ENOPH1, EPGN, EREG, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FRAS1, G3BP2, GC, GK2, GRSF1, HNRNPD, HNRNPD-DT, HNRNPDL, HTN1, HTN3, INKILN, JCHAIN, LINC00575, LINC00989, LINC01088, LINC01094, LINC02483, LINC02499, LINC02562, LOC101928893, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC114803476, LOC114827842, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC550113, MIR4450, MIR548AH, MOB1B, MRPL1, MTHFD2L, MUC7, NAA11, NAAA, NPFFR2, NUP54, ODAM, ODAPH, OPRPN, PAQR3, PARM1, PCAT4, PF4, PF4V1, PPBP, PPEF2, PRDM8, PRKG2, PRR27, RASGEF1B, RASSF6, RCHY1, RUFY3, SCARB2, SCD5, SDAD1, SEPTIN11, SEPTIN11-DT, SHROOM3, SLC4A4, SMR3A, SMR3B, SNORD161, SOWAHB, STATH, STBD1, SULT1B1, SULT1E1, THAP6, TMEM150C, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, UTP3, YTHDC1 1 0 0 0 0 1
ADAR 0 0 1 0 0 1
ADCY3, CENPO 0 0 1 0 0 1
ADCY5 1 0 0 0 0 1
ADCY9, CORO7, CORO7-PAM16, CREBBP, DNAJA3, DNASE1, GLIS2, LINC01569, LINC02861, LOC105371062, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC129390755, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, PAM16, SRL, TFAP4, TRAP1, VASN 1 0 0 0 0 1
ADGRV1 0 0 0 1 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, GTSCR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC130062806, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PTGR3, RBFA, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 0 0 0 0 1
AFF2, FRAXE, LOC107048984 1 0 0 0 0 1
AFG2A 0 0 1 0 0 1
AGA 1 0 0 0 0 1
AGO1 0 0 1 0 0 1
AGXT 0 1 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, CAPN10-DT, COL6A3, COPS8, COPS8-DT, COPS9, CROCC2, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FAM240C, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LINC01107, LINC01237, LINC01238, LINC01880, LINC01881, LINC01937, LINC01940, LINC02610, LINC02991, LINC03100, LOC100287387, LOC106783501, LOC110121201, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110599582, LOC111501790, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC115947637, LOC115947638, LOC115947639, LOC121009633, LOC121009634, LOC121009635, LOC121725125, LOC121725126, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC129389012, LOC129389013, LOC129389014, LOC129389015, LOC129389016, LOC129935916, LOC129935917, LOC129935918, LOC129935919, LOC129935920, LOC129935921, LOC129935922, LOC129935923, LOC129935924, LOC129935925, LOC129935926, LOC129935927, LOC129935928, LOC129935929, LOC129935930, LOC129935931, LOC129935932, LOC129935933, LOC129935934, LOC129935935, LOC129935936, LOC129935937, LOC129935938, LOC129935939, LOC129935940, LOC129935941, LOC129935942, LOC129935943, LOC129935944, LOC129935945, LOC129935946, LOC129935947, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC129935990, LOC129935991, LOC129935992, LOC129935993, LOC129935994, LOC129935995, LOC129935996, LOC129935997, LOC129935998, LOC129935999, LOC129936000, LOC129936001, LOC129936002, LOC129936003, LOC129936004, LOC129936005, LOC129936006, LOC129936007, LOC129936008, LOC129936009, LOC129936010, LOC129936011, LOC129936012, LOC129936013, LOC129936014, LOC129936015, LOC129936016, LOC129936017, LOC129936018, LOC129936019, LOC129936020, LOC129936021, LOC129936022, LOC129936023, LOC129936024, LOC129936025, LOC129936026, LOC129936027, LOC129936028, LOC129936029, LOC129936030, LOC129936031, LOC129936032, LOC129936033, LOC129936034, LOC132088825, LOC132088826, LOC132088827, LOC132088828, LOC132088829, LOC132088830, LOC132088831, LOC132088832, LOC132088833, LOC132088834, LOC132088835, LOC132088836, LOC132088837, LOC132090688, LOC132090689, LOC132090690, LOC132205954, LOC150935, LOC285097, LOC285191, LOC93463, LRRFIP1, MAB21L4, MIR149, MIR2467, MIR3133, MIR4269, MIR4440, MIR4441, MIR4786, MIR6811, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAB17-DT, RAMP1, RBM44, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, TANAR, THAP4, TRAF3IP1, TWIST2, UBE2F, UBE2F-SCLY, UICLM 1 0 0 0 0 1
AHCY 0 0 1 0 0 1
AK3, BRD10, CD274, CDC37L1, CDC37L1-DT, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, GLDC, GLIS3, IL33, INCR1, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, LINC-ADAIN, LINC01231, LINC02851, LINC03131, LOC105375972, LOC107522029, LOC107882132, LOC108281132, LOC110120591, LOC110120655, LOC110121072, LOC110121197, LOC111413010, LOC111465019, LOC113839544, LOC113839554, LOC114022704, LOC121331316, LOC121331317, LOC121331318, LOC121331319, LOC121740737, LOC121740738, LOC121740739, LOC121811698, LOC124210605, LOC124210606, LOC124210607, LOC124210608, LOC124210609, LOC124210610, LOC124210611, LOC124210612, LOC124210613, LOC124210614, LOC124210615, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC126860556, LOC126860557, LOC126860558, LOC126860559, LOC126860560, LOC126860561, LOC126860562, LOC126860563, LOC126860564, LOC126860565, LOC126860566, LOC126860567, LOC126860568, LOC126860569, LOC126860570, LOC126860571, LOC126860572, LOC126860573, LOC126860574, LOC126860575, LOC126860576, LOC126860577, LOC126860578, LOC126860579, LOC129390062, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, LOC130001467, LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, LOC130001473, LOC130001474, LOC130001475, LOC130001476, LOC130001477, LOC130001478, LOC130001479, LOC130001480, LOC130001481, LOC130001482, LOC130001483, LOC130001484, LOC130001485, LOC130001486, LOC130001487, LOC130001488, LOC130001489, LOC130001490, LOC130001491, LOC130001492, LOC130001493, LOC130001494, LOC130001495, LOC130001496, LOC130001497, LOC130001498, LOC130001499, LOC130001500, LOC130001501, LOC130001502, LOC130001503, LOC130001504, LOC130001505, LOC130001506, LOC130001507, LOC130001508, LOC130001509, LOC130001510, LOC130001511, LOC130001512, LOC130001513, LOC130001514, LOC130001515, LOC130001516, LOC130001517, LOC130001518, LOC130001519, LOC130001520, LOC130001521, LOC130001522, LOC130001523, LOC130001524, LOC130001525, LOC130001526, LOC130001527, LOC130001528, LOC130001529, LOC130001530, LOC130001531, LOC130001532, LOC130001533, LOC130001534, LOC130001535, LOC130001536, LOC130001537, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545, LOC130001546, LOC130001547, LOC130001548, LOC130001549, LOC130001550, LOC130001551, LOC130001552, LOC130001553, LOC130001554, LOC130001555, LOC130001556, LOC130001557, LOC130001558, MIR101-2, MIR4665, MLANA, PDCD1LG2, PLGRKT, PLPP6, PTPRD, PTPRD-DT, PUM3, RANBP6, RCL1, RFX3, RFX3-DT, RIC1, RLN1, RLN2, SLC1A1, SMARCA2, SPATA6L, TPD52L3, UHRF2, VLDLR 1 0 0 0 0 1
AKR1D1 0 0 1 0 0 1
AKT3 1 0 0 0 0 1
ALDH3A2 1 0 0 0 0 1
ALDH4A1 0 1 0 0 0 1
ALDH6A1, BBOF1 0 0 1 0 0 1
ALDOA, ASPHD1, C16orf54, CDIPT, CDIPTOSP, CORO1A, DOC2A, FIMP1, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 0 1
ALDOA, LOC112694756 0 0 1 0 0 1
ALG6 0 0 1 0 0 1
ALG9 0 0 0 1 0 1
ALKBH8 0 0 1 0 0 1
ALOX12B 0 0 1 0 0 1
ALOXE3, HES7, LOC126862485, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 1 0 0 0 0 1
ALS2 1 0 0 0 0 1
ALX4 0 1 0 0 0 1
AMH 1 0 0 0 0 1
AMMECR1 0 0 1 0 0 1
AMT, NICN1 0 0 1 0 0 1
ANGPT2, MCPH1 0 1 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
ANKS6 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
AP3B2, CPEB1 0 0 1 0 0 1
APOB 0 0 1 0 0 1
APOE 0 0 1 0 0 1
APP 0 0 1 0 0 1
APRT 0 1 0 0 0 1
APTX 1 0 0 0 0 1
ARHGEF12 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARID1A, LOC129929837 0 0 1 0 0 1
ARID1B, LOC115308161, LOC129997522 0 0 1 0 0 1
ARID2, LOC130007728 1 0 0 0 0 1
ARL6IP1, LOC130058582 0 0 1 0 0 1
ARMC5 0 0 1 0 0 1
ARMC9 0 0 0 0 1 1
ARSB 0 0 1 0 0 1
ARSB, LOC129994126 0 0 1 0 0 1
ARV1 0 0 1 0 0 1
ASAH1 0 0 1 0 0 1
ASCC1 0 0 1 0 0 1
ASIC4, GMPPA 0 1 0 0 0 1
ASS1 1 0 0 0 0 1
ASTN2, TRIM32 0 1 0 0 0 1
ATN1, LOC109461484 0 0 1 0 0 1
ATP11A 0 0 1 0 0 1
ATP13A3 0 0 1 0 0 1
ATP2B1 0 0 1 0 0 1
ATP2B2 0 0 1 0 0 1
ATP2B3 0 0 0 1 0 1
ATP5PO, CFAP298, CFAP298-TCP10L, CRYZL1, DNAJC28, DONSON, EPCIP, EVA1C, GART, IFNAR1, IFNAR2, IFNAR2-IL10RB, IFNGR2, IL10RB, IL10RB-DT, ITSN1, KCNE2, LINC00310, LINC00649, LINC00945, LINC01548, LINC01690, LOC101928107, LOC101928126, LOC105372791, LOC110121331, LOC110121350, LOC110121395, LOC110121495, LOC112694736, LOC119230225, LOC119266102, LOC120807613, LOC121853026, LOC125418060, LOC125418061, LOC125418062, LOC125418063, LOC126653342, LOC126653343, LOC126653344, LOC126653345, LOC126653346, LOC126653347, LOC126653348, LOC126653349, LOC126653350, LOC126653351, LOC126653352, LOC126653353, LOC128462413, LOC130066543, LOC130066544, LOC130066545, LOC130066546, LOC130066547, LOC130066548, LOC130066549, LOC130066550, LOC130066551, LOC130066552, LOC130066553, LOC130066554, LOC130066555, LOC130066556, LOC130066557, LOC130066558, LOC130066559, LOC130066560, LOC130066561, LOC130066562, LOC130066563, LOC130066564, LOC130066565, LOC130066566, LOC130066567, LOC130066568, LOC130066569, LOC130066570, LOC130066571, LOC130066572, LOC130066573, LOC130066574, LOC130066575, LOC130066576, LOC130066577, LOC130066578, LOC130066579, LOC130066580, LOC130066581, MIR6501, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, SLC5A3, SNORA80A, SON, SYNJ1, TCP10L, TMEM50B, URB1, URB1-DT 1 0 0 0 0 1
ATP6V0A4 1 0 0 0 0 1
AURKA 0 0 1 0 0 1
AXDND1, NPHS2 1 0 0 0 0 1
B2M, CTDSPL2, EIF3J, EIF3J-DT, GOLM2, LOC121847945, LOC125078071, LOC125078072, LOC130056968, LOC130056969, LOC130056970, LOC130056971, LOC130056972, LOC130056973, LOC130056974, LOC130056975, LOC130056976, LOC130056977, LOC130056978, MIR10393, PATL2, SPG11, TRIM69 0 0 1 0 0 1
B3GALNT2 0 0 1 0 0 1
B4GALNT1 1 0 0 0 0 1
B4GALT1 0 0 1 0 0 1
BBS1 1 0 0 0 0 1
BBS7 0 0 1 0 0 1
BCHE 1 0 0 0 0 1
BCKDK 0 1 0 0 0 1
BCL11B 0 0 1 0 0 1
BEST1 0 1 0 0 0 1
BIN1 0 1 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 1
BLOC1S1-RDH5, CD63, RDH5 0 1 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 0 1 0 0 0 1
BMP2 0 1 0 0 0 1
BMP4 0 0 1 0 0 1
BMP6 0 0 1 0 0 1
BNAT1, COL18A1 1 0 0 0 0 1
BRAT1 1 0 0 0 0 1
BRD4 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 0 1 0 0 1
BUB1B, BUB1B-PAK6 0 0 1 0 0 1
C10orf105, CDH23 0 1 0 0 0 1
C14orf39, SIX6 0 1 0 0 0 1
C17orf107, CHRNE 0 1 0 0 0 1
C19orf12 0 1 0 0 0 1
C1QB 0 0 1 0 0 1
C1QTNF9, C1QTNF9B, LINC00327, LINC00362, LINC00566, LOC106783494, LOC112163649, LOC121466729, LOC124849295, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC130009370, LOC130009371, LOC130009372, LOC130009373, LOC130009374, LOC130009375, LOC130009376, LOC130009377, LOC130009378, LOC130009379, LOC130009380, LOC130009381, LOC130009382, LOC130009383, LOC130009384, LOC130009385, LOC130009386, LOC130009387, LOC130009388, LOC130009389, LOC130009390, LOC130009391, LOC130009392, LOC130009393, LOC130009394, LOC130009395, LOC130009396, LOC132090177, LOC132090178, LOC132090179, LOC132090180, LOC132090181, LOC132090182, MIPEP, MIR2276, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 1 0 0 1
C1R 0 0 1 0 0 1
C2CD3 0 1 0 0 0 1
C2orf49, FHL2 0 0 1 0 0 1
C6 1 0 0 0 0 1
C7 0 1 0 0 0 1
C8B 0 1 0 0 0 1
CACNA1F 0 1 0 0 0 1
CACNA2D3 0 0 1 0 0 1
CACNB2 0 0 1 0 0 1
CACNG2 0 0 1 0 0 1
CAMK2A 0 0 1 0 0 1
CAMK2B 0 0 1 0 0 1
CAMK2G 0 0 1 0 0 1
CAPN3 0 1 0 0 0 1
CAPZA2 0 0 1 0 0 1
CARMIL2 0 0 1 0 0 1
CASD1, SGCE 0 1 0 0 0 1
CASP10 0 0 1 0 0 1
CASQ1 0 0 1 0 0 1
CAV3, OXTR 0 0 1 0 0 1
CBLB 0 0 1 0 0 1
CBS 1 0 0 0 0 1
CCDC134 1 0 0 0 0 1
CCDC32 1 0 0 0 0 1
CCDC39 1 0 0 0 0 1
CCDC85C, CCNK 0 0 1 0 0 1
CCDC88A 0 0 1 0 0 1
CCM2 1 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 1
CD3D 1 0 0 0 0 1
CD46 0 1 0 0 0 1
CDC42 0 0 1 0 0 1
CDC6 0 0 1 0 0 1
CDH11 0 0 1 0 0 1
CDH2 0 0 1 0 0 1
CDH3 1 0 0 0 0 1
CDK5RAP2 0 0 1 0 0 1
CDK8 0 0 1 0 0 1
CDKN1B 0 0 1 0 0 1
CDKN2A 0 0 1 0 0 1
CDKN2A, LOC130001603 1 0 0 0 0 1
CDON 0 0 1 0 0 1
CDR2, CDR2-DT, EEF2K, LOC105371129, LOC111562378, LOC121587534, LOC125146427, LOC125146428, LOC126862313, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC132090373, MOSMO, PDZD9, POLR3E, SDR42E2, TRL-AAG2-4, TRL-TAG3-1, UQCRC2, VWA3A 1 0 0 0 0 1
CDT1 0 1 0 0 0 1
CENPE 0 0 0 1 0 1
CEP104, LOC126805586 0 1 0 0 0 1
CEP135 0 0 0 1 0 1
CEP290 1 0 0 0 0 1
CEP290, LOC129390514 0 1 0 0 0 1
CEP85L 0 0 1 0 0 1
CERKL 1 0 0 0 0 1
CERT1 0 0 1 0 0 1
CETP 0 0 1 0 0 1
CFH 0 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 1
CHCHD10 0 0 1 0 0 1
CHD3, SCARNA21 0 0 1 0 0 1
CHKB, CHKB-CPT1B 0 1 0 0 0 1
CHRNA1 0 0 1 0 0 1
CHRNB1 0 0 1 0 0 1
CHRNB2 0 0 1 0 0 1
CHRNE 0 0 1 0 0 1
CHRNG 0 0 1 0 0 1
CISD3, PCGF2 0 0 1 0 0 1
CLCC1, GPSM2 0 0 1 0 0 1
CLCF1, LOC100130987 0 0 1 0 0 1
CLCN5 1 0 0 0 0 1
CLMP 0 1 0 0 0 1
CLN8 0 0 1 0 0 1
CLRN1 0 1 0 0 0 1
CLTC, LOC125177523 0 1 0 0 0 1
COG1 0 0 1 0 0 1
COG1, LOC126862634 0 0 1 0 0 1
COG2, LOC129932756 0 1 0 0 0 1
COG4 0 1 0 0 0 1
COG6 0 1 0 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 1
COL13A1 0 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 0 1
COL27A1 0 1 0 0 0 1
COL2A1 0 1 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 1
COL4A4 0 0 1 0 0 1
COL6A1 0 1 0 0 0 1
COLEC10, LOC101927513, LOC126860480 1 0 0 0 0 1
COPB2 0 1 0 0 0 1
COQ7, COQ7-DT, LOC130058587 0 1 0 0 0 1
COQ8A 0 1 0 0 0 1
COX15 1 0 0 0 0 1
COX6A1 0 0 1 0 0 1
CP 0 0 1 0 0 1
CPA1 0 0 1 0 0 1
CPSF3 0 0 1 0 0 1
CPT1A 0 0 1 0 0 1
CR2 0 1 0 0 0 1
CRB1 1 0 0 0 0 1
CRBN 0 1 0 0 0 1
CRYBA4 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CRYGD, LOC100507443 0 0 1 0 0 1
CRYM 0 0 1 0 0 1
CSTA 0 1 0 0 0 1
CTBP1 0 0 1 0 0 1
CTCF 0 0 1 0 0 1
CTDP1 0 0 1 0 0 1
CTNNA1 0 0 1 0 0 1
CTNNB1 0 0 1 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 1
CTNND1, TMX2-CTNND1 0 1 0 0 0 1
CTNS 0 0 1 0 0 1
CTSF 0 1 0 0 0 1
CUL4B 0 0 1 0 0 1
CWF19L1 0 0 1 0 0 1
CXCR4 0 0 1 0 0 1
CYB5R3 1 0 0 0 0 1
CYBA 0 0 1 0 0 1
CYBC1 0 0 1 0 0 1
CYCS 0 0 1 0 0 1
CYP2R1, PDE3B 0 1 0 0 0 1
DACT1 0 0 1 0 0 1
DALRD3 0 0 1 0 0 1
DBT 0 1 0 0 0 1
DCAF8 0 0 1 0 0 1
DCDC2 1 0 0 0 0 1
DDB2, LOC126861205 0 1 0 0 0 1
DDX6 0 0 1 0 0 1
DENND5A 0 0 1 0 0 1
DGAT1 0 0 1 0 0 1
DGAT1, MIR6848 0 0 1 0 0 1
DGCR8 0 0 0 1 0 1
DHCR7, NADSYN1 0 0 1 0 0 1
DHODH 1 0 0 0 0 1
DHODH, LOC126862390 0 0 1 0 0 1
DIAPH1 0 0 0 1 0 1
DIAPH3 0 0 1 0 0 1
DIP2C 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLG3 0 0 1 0 0 1
DLG4 0 1 0 0 0 1
DLG4, LOC126862479 0 0 1 0 0 1
DLL1, LOC126859913 0 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 1
DNAJC21 0 0 1 0 0 1
DNAJC30 0 0 1 0 0 1
DNAJC30, LOC129998603 0 1 0 0 0 1
DNM1, LOC113839516 0 0 1 0 0 1
DNM2 0 1 0 0 0 1
DOCK6 0 0 0 1 0 1
DOCK7 0 1 0 0 0 1
DOK7 1 0 0 0 0 1
DOK7, LOC126806951 0 0 1 0 0 1
DPYD 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSE 0 1 0 0 0 1
DTNA 0 0 1 0 0 1
EBP 0 0 1 0 0 1
EEF2, LOC130063169 0 0 1 0 0 1
EFCAB10, RINT1 0 0 1 0 0 1
EHHADH 0 0 1 0 0 1
EIF2AK3 1 0 0 0 0 1
EIF2B3 0 0 1 0 0 1
EIF2B5 1 0 0 0 0 1
ELMO2 0 1 0 0 0 1
ELMOD3 0 0 1 0 0 1
ELP2 0 1 0 0 0 1
EMC1 0 0 1 0 0 1
EMD 0 0 0 1 0 1
ENTPD1 0 0 1 0 0 1
EP400 0 0 1 0 0 1
EPCAM 0 0 1 0 0 1
EPHB4 0 0 1 0 0 1
EPRS1 0 0 0 1 0 1
ERAL1, LOC126862526 0 0 1 0 0 1
ERCC1 0 1 0 0 0 1
ERCC3 0 1 0 0 0 1
ERF 0 0 1 0 0 1
ETHE1 0 0 1 0 0 1
ETV6, LOC126861452 0 0 1 0 0 1
EXOC7 0 0 0 0 1 1
EXT2 0 1 0 0 0 1
EZH2 0 0 1 0 0 1
F2 1 0 0 0 0 1
F7 0 1 0 0 0 1
FA2H 0 1 0 0 0 1
FA2H, LOC130059394 0 1 0 0 0 1
FAM50A 0 0 1 0 0 1
FAN1 0 1 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FANCB, GLRA2 0 0 1 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 1
FANCE, LOC129996245 0 0 1 0 0 1
FANCL 0 0 1 0 0 1
FARS2, LOC126859565 0 0 1 0 0 1
FAS 0 1 0 0 0 1
FAT4 0 0 1 0 0 1
FBLN5 0 0 1 0 0 1
FBN3 0 0 0 1 0 1
FBXO11, MSH6 0 0 1 0 0 1
FCGR3A 0 0 1 0 0 1
FCSK 0 0 1 0 0 1
FECH 0 0 1 0 0 1
FIBP 0 0 1 0 0 1
FKBP14 1 0 0 0 0 1
FLCN 0 0 1 0 0 1
FLT4 0 0 1 0 0 1
FMO3, LOC126805916 0 0 0 0 1 1
FMR1 0 0 0 0 1 1
FN1 0 0 1 0 0 1
FOXC1 0 0 1 0 0 1
FOXG1 0 0 1 0 0 1
FOXI3 0 0 1 0 0 1
FOXP1, LOC126806714 0 1 0 0 0 1
FRRS1L 1 0 0 0 0 1
FTO 0 0 1 0 0 1
FXR1 0 0 1 0 0 1
FYCO1 0 0 1 0 0 1
FZD2 0 0 1 0 0 1
FZR1 0 0 1 0 0 1
G6PD 0 1 0 0 0 1
GABRB3 0 0 1 0 0 1
GAL 0 0 1 0 0 1
GALK1 0 1 0 0 0 1
GALNT3 1 0 0 0 0 1
GAMT 1 0 0 0 0 1
GAMT, LOC130062945 1 0 0 0 0 1
GAN, LOC130059498 0 0 1 0 0 1
GATA1 1 0 0 0 0 1
GATA2 0 0 1 0 0 1
GATA3 0 1 0 0 0 1
GATA6 0 0 1 0 0 1
GCDH, LOC117125594 0 0 1 0 0 1
GCK 0 0 1 0 0 1
GCNT2 0 0 1 0 0 1
GCSH 0 0 1 0 0 1
GDAP1 0 0 1 0 0 1
GDF11 0 0 1 0 0 1
GDI1 0 0 1 0 0 1
GFM1 0 1 0 0 0 1
GH1 1 0 0 0 0 1
GHR 0 1 0 0 0 1
GINS1 0 0 1 0 0 1
GJB3 0 0 1 0 0 1
GJB6 1 0 0 0 0 1
GJC2 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 1
GLE1, LOC101929270 0 0 1 0 0 1
GLI3 0 0 1 0 0 1
GLUD2 0 0 1 0 0 1
GLUL 0 0 1 0 0 1
GMNN 0 0 1 0 0 1
GNAI1 0 1 0 0 0 1
GNAO1 0 0 1 0 0 1
GNG12, WLS 0 0 1 0 0 1
GNPAT 0 0 1 0 0 1
GNPTAB 1 0 0 0 0 1
GNRH1 0 1 0 0 0 1
GNRHR 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GPRC5B 0 0 1 0 0 1
GPSM2 1 0 0 0 0 1
GRHL2 0 0 1 0 0 1
GRIA3 0 0 1 0 0 1
GRIA4, LOC126861324 0 0 1 0 0 1
GRIK2 0 0 1 0 0 1
GRIN2D, LOC130064855 0 0 1 0 0 1
GRIN2D, LOC130064856 0 0 1 0 0 1
GRIP1 0 0 1 0 0 1
GRXCR1 0 0 1 0 0 1
GSC 0 0 1 0 0 1
GSDME 0 0 1 0 0 1
GSS 0 0 1 0 0 1
GTPBP2 0 0 1 0 0 1
GUCY1A1 0 0 1 0 0 1
GUSB 1 0 0 0 0 1
H2BC12, H4C9 0 0 1 0 0 1
H4C5 0 0 1 0 0 1
HAAO, LOC129933588 0 1 0 0 0 1
HABP2 0 0 1 0 0 1
HADHB 0 1 0 0 0 1
HARS1 0 1 0 0 0 1
HAVCR2 0 0 1 0 0 1
HAX1 1 0 0 0 0 1
HBA-LCR, NPRL3 0 0 1 0 0 1
HCN2 0 0 1 0 0 1
HCN4 0 0 1 0 0 1
HEPHL1 0 0 1 0 0 1
HES7, LOC130060203 0 0 1 0 0 1
HLCS 0 0 1 0 0 1
HMGA2 0 0 1 0 0 1
HMGCL 1 0 0 0 0 1
HNF1A 0 0 1 0 0 1
HNF4A 1 0 0 0 0 1
HNRNPA2B1 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 0 1 0 0 1
HNRNPR 0 0 1 0 0 1
HOGA1 1 0 0 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 1
HPDL 0 0 1 0 0 1
HPRT1 0 1 0 0 0 1
HPS6 0 1 0 0 0 1
HS6ST1, LOC121725102 0 0 1 0 0 1
HSD17B10 0 0 1 0 0 1
HSD17B4 0 1 0 0 0 1
HSF4 1 0 0 0 0 1
HSPB3 0 0 1 0 0 1
HTR1A 0 0 1 0 0 1
HTRA1 0 0 1 0 0 1
HTT, LOC109461479, LOC129929027 0 0 0 0 1 1
HUWE1, LOC126863262 0 0 1 0 0 1
HYOU1 0 0 1 0 0 1
IARS2 0 0 1 0 0 1
IDH2 0 0 1 0 0 1
IDS, LOC106050102 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFNAR1 1 0 0 0 0 1
IFNAR2, IFNAR2-IL10RB 0 0 1 0 0 1
IFNAR2-IL10RB, IL10RB 0 0 1 0 0 1
IFNGR1 0 0 1 0 0 1
IGHMBP2 0 1 0 0 0 1
IGSF1 0 0 1 0 0 1
IKBKB 0 0 1 0 0 1
IKBKG 0 0 1 0 0 1
IL10RA 0 1 0 0 0 1
IL17F 0 0 1 0 0 1
IL17RA, LOC129391259 0 0 1 0 0 1
IL1RAPL1 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL2RA 0 0 1 0 0 1
IL2RG 1 0 0 0 0 1
IL6R 0 0 1 0 0 1
IL6ST 0 0 1 0 0 1
INPP5K 0 0 1 0 0 1
INSR 0 0 1 0 0 1
IQCB1 0 0 0 1 0 1
IRF2BP2, LOC129932812 0 0 1 0 0 1
IRF3 0 0 1 0 0 1
IRF5 0 0 1 0 0 1
IRF8 0 0 1 0 0 1
IRX5 0 0 1 0 0 1
ISG15 0 1 0 0 0 1
ITCH 0 0 1 0 0 1
ITGB3 0 0 1 0 0 1
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT 1 0 0 0 0 1
IVD 1 0 0 0 0 1
IVNS1ABP 0 0 1 0 0 1
JAK1, LOC129930680 0 0 1 0 0 1
JMJD1C 0 0 1 0 0 1
KBTBD13 0 0 1 0 0 1
KCNA1 0 0 1 0 0 1
KCNC1 0 0 1 0 0 1
KCNC2 0 0 1 0 0 1
KCNC3, LOC111811967 0 0 1 0 0 1
KCND3 1 0 0 0 0 1
KCNJ10 0 0 1 0 0 1
KCNJ5 0 0 1 0 0 1
KCNJ6 0 0 1 0 0 1
KCNK18 0 0 1 0 0 1
KCNK4, KCNK4-CATSPERZ 0 0 1 0 0 1
KCNK9, LOC124188239 0 0 1 0 0 1
KCNN3 0 0 1 0 0 1
KCNQ5, KCNQ5-DT 0 0 1 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 0 1
KDELR2 0 0 1 0 0 1
KDM4B, LOC130063244 0 0 1 0 0 1
KDM6B, LOC121587574 0 0 1 0 0 1
KIDINS220 0 0 1 0 0 1
KIF2A 0 0 1 0 0 1
KIF4A 0 0 1 0 0 1
KIRREL3 0 0 1 0 0 1
KLC1, XRCC3 0 0 1 0 0 1
KLC2 1 0 0 0 0 1
KLF9-DT, TRPM3 0 0 1 0 0 1
KLHL24 1 0 0 0 0 1
KLLN 0 0 1 0 0 1
KLLN, LOC130004271 0 0 1 0 0 1
KMT2C, LOC123956272 0 0 1 0 0 1
KNG1 0 0 1 0 0 1
KRAS 0 1 0 0 0 1
KRIT1 0 0 1 0 0 1
KRT10 0 1 0 0 0 1
KRT5, LOC126861526 0 1 0 0 0 1
KRT6C 0 0 1 0 0 1
L2HGDH 1 0 0 0 0 1
LAMA4 0 0 1 0 0 1
LAMB3, LOC126805999 0 0 1 0 0 1
LAMC3 0 0 0 1 0 1
LARP7 0 1 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LETM1 0 0 1 0 0 1
LINS1 0 1 0 0 0 1
LMNA 1 0 0 0 0 1
LMOD3, LOC126806710 1 0 0 0 0 1
LNPK 0 1 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107303339, LOC107303340, VHL 1 0 0 0 0 1
LOC107303340, VHL 0 0 1 0 0 1
LOC107372315, OSGEP 0 1 0 0 0 1
LOC107985033, SLFN14 0 0 1 0 0 1
LOC110806263, TERT 0 0 1 0 0 1
LOC112163633, PPP1R12A 0 0 1 0 0 1
LOC114803468, MACF1 0 0 1 0 0 1
LOC114827850, MYL2 0 1 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 1
LOC126653391, RSPH1 1 0 0 0 0 1
LOC126806264, POLR1A 0 0 1 0 0 1
LOC126806420, TTN 0 0 0 1 0 1
LOC126806425, TTN 0 0 1 0 0 1
LOC126806490, UNC80 0 0 1 0 0 1
LOC126807526, MATR3 0 0 1 0 0 1
LOC126807596, RANBP17 0 0 1 0 0 1
LOC126859646, VARS2 0 0 1 0 0 1
LOC126860075, POR 1 0 0 0 0 1
LOC126860498, WASHC5 0 1 0 0 0 1
LOC126861339, SDHD 0 1 0 0 0 1
LOC126861440, NECAP1 0 1 0 0 0 1
LOC126862481, POLR2A 0 0 1 0 0 1
LOC126862876, MAST3 0 0 1 0 0 1
LOC126862902, RYR1 1 0 0 0 0 1
LOC126863133, TOM1 0 0 1 0 0 1
LOC126863256, WDR45 1 0 0 0 0 1
LOC126863277, OGT 0 0 1 0 0 1
LOC129929542, LOC129929543, SDHB 1 0 0 0 0 1
LOC129931093, SARS1 0 0 1 0 0 1
LOC129933461, LTBP1 0 0 1 0 0 1
LOC129933707, MSH6 0 0 1 0 0 1
LOC129935026, TBR1 1 0 0 0 0 1
LOC129936056, SUMF1 0 0 1 0 0 1
LOC129936714, UQCRC1 0 0 1 0 0 1
LOC129936899, PRKCD 0 0 1 0 0 1
LOC129994569, MIR3936HG, SLC22A5 1 0 0 0 0 1
LOC129996783, ZNF292 0 0 1 0 0 1
LOC130000338, MCM4 0 0 1 0 0 1
LOC130000726, OTUD6B 0 0 1 0 0 1
LOC130001411, RECQL4 0 0 1 0 0 1
LOC130002719, SET 0 0 1 0 0 1
LOC130002772, TOR1A 0 0 1 0 0 1
LOC130004599, NFKB2 0 1 0 0 0 1
LOC130006032, LTBP3 0 0 1 0 0 1
LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, MEIS2 0 1 0 0 0 1
LOC130057352, SMAD3 0 0 1 0 0 1
LOC130058907, SLC5A2 1 0 0 0 0 1
LOC130059740, MVD 0 0 1 0 0 1
LOC130059818, SPG7 0 0 1 0 0 1
LOC130059892, SERPINF1 1 0 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
LOC130063256, MICOS13 0 1 0 0 0 1
LOC130067016, LZTR1 1 0 0 0 0 1
LOC130067862, TYMP 0 1 0 0 0 1
LOC340512, ZNF462 0 0 1 0 0 1
LONP1 0 0 0 1 0 1
LONP2, SIAH1 0 0 1 0 0 1
LORICRIN 0 0 1 0 0 1
LPIN2 0 0 1 0 0 1
LPL 1 0 0 0 0 1
LRRC8A 0 0 0 1 0 1
LRRFIP2, MLH1 1 0 0 0 0 1
LTBP1 0 0 1 0 0 1
LTBP4 0 1 0 0 0 1
MAGI2 0 1 0 0 0 1
MAK 0 1 0 0 0 1
MAN2B1 0 1 0 0 0 1
MAN2C1 0 0 1 0 0 1
MAOA 0 0 1 0 0 1
MAP1B 0 0 1 0 0 1
MAP3K20 0 0 1 0 0 1
MAP3K7 0 0 1 0 0 1
MAPK1 0 0 1 0 0 1
MAPK10 0 0 1 0 0 1
MAPKBP1 0 1 0 0 0 1
MAPRE2 0 0 1 0 0 1
MASTL 0 0 1 0 0 1
MAX 0 1 0 0 0 1
MBTPS1 1 0 0 0 0 1
MCCC2 1 0 0 0 0 1
MEGF8 0 1 0 0 0 1
MEIS2 0 1 0 0 0 1
MIB1 0 1 0 0 0 1
MID1 0 0 1 0 0 1
MIR6084, PINK1 0 0 1 0 0 1
MITF 0 1 0 0 0 1
MKKS 0 1 0 0 0 1
MKRN3 1 0 0 0 0 1
MLC1 1 0 0 0 0 1
MLYCD 0 0 1 0 0 1
MME 0 0 1 0 0 1
MMP2 0 1 0 0 0 1
MN1 0 0 1 0 0 1
MNX1 0 1 0 0 0 1
MOCS1 0 1 0 0 0 1
MOCS2 1 0 0 0 0 1
MPZ 1 0 0 0 0 1
MRPS7 0 1 0 0 0 1
MS4A1 0 0 1 0 0 1
MSL3 0 1 0 0 0 1
MSMO1 0 0 1 0 0 1
MSR1 0 0 1 0 0 1
MT-TL1 0 1 0 0 0 1
MTHFS, ST20-MTHFS 0 0 1 0 0 1
MTM1 0 0 1 0 0 1
MTO1 0 1 0 0 0 1
MTSS2 0 0 1 0 0 1
MTTP 1 0 0 0 0 1
MUC1 0 0 1 0 0 1
MUC5B 0 0 1 0 0 1
MYH10 0 0 1 0 0 1
MYH14 0 0 1 0 0 1
MYH2 0 1 0 0 0 1
MYH6 0 0 1 0 0 1
MYH9 0 0 1 0 0 1
MYLK 0 1 0 0 0 1
MYMK 0 1 0 0 0 1
MYO3A 0 1 0 0 0 1
MYO5B 1 0 0 0 0 1
MYO6 0 0 1 0 0 1
MYORG 0 0 1 0 0 1
MYPN 0 0 0 1 0 1
NAGA 0 1 0 0 0 1
NANS, TRIM14 0 0 1 0 0 1
NAV2 0 0 1 0 0 1
NCAPD2 0 0 1 0 0 1
NCDN 0 0 1 0 0 1
NCKAP1L 1 0 0 0 0 1
NCSTN 0 0 1 0 0 1
NDE1 1 0 0 0 0 1
NDNF 0 0 1 0 0 1
NDP 0 1 0 0 0 1
NDUFA10 0 1 0 0 0 1
NDUFAF3 0 0 1 0 0 1
NDUFAF6 0 0 1 0 0 1
NDUFS3 0 1 0 0 0 1
NDUFS8 0 0 1 0 0 1
NEK8 0 0 1 0 0 1
NEK9 0 0 1 0 0 1
NEUROD2 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
NHLRC2 0 1 0 0 0 1
NIPA1 0 0 1 0 0 1
NKAP 0 0 1 0 0 1
NLGN1 0 0 1 0 0 1
NLGN3 0 0 1 0 0 1
NLRP3 0 0 1 0 0 1
NMNAT1 0 1 0 0 0 1
NNT 0 0 1 0 0 1
NOTCH1 0 0 1 0 0 1
NOTCH3 0 1 0 0 0 1
NOVA2 0 0 1 0 0 1
NPC2 1 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 0 1 0 1
NPHS2 1 0 0 0 0 1
NPR2 0 0 1 0 0 1
NPRL2 0 1 0 0 0 1
NR1H4 0 1 0 0 0 1
NR2E3 1 0 0 0 0 1
NR2F1 0 0 1 0 0 1
NR4A2 0 0 1 0 0 1
NRAS 1 0 0 0 0 1
NT5C2 0 0 1 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
NUBPL 0 0 1 0 0 1
OCA2 1 0 0 0 0 1
OFD1 0 1 0 0 0 1
OGT 0 0 1 0 0 1
OSBPL2 1 0 0 0 0 1
OTC 1 0 0 0 0 1
OTOF 1 0 0 0 0 1
OTOG 0 1 0 0 0 1
OTOGL 0 1 0 0 0 1
OTUD5 0 0 1 0 0 1
PAK1 0 0 1 0 0 1
PAK3 0 1 0 0 0 1
PANK2 0 1 0 0 0 1
PAPSS2 1 0 0 0 0 1
PAX5 0 0 1 0 0 1
PAX6 0 1 0 0 0 1
PC 0 0 1 0 0 1
PCDH15 0 0 1 0 0 1
PCLO 0 0 1 0 0 1
PCNA 0 1 0 0 0 1
PCYT1A 0 1 0 0 0 1
PDCD10 1 0 0 0 0 1
PDGFRA 0 0 1 0 0 1
PDHX 1 0 0 0 0 1
PDSS2 0 1 0 0 0 1
PEX1 1 0 0 0 0 1
PEX2 0 0 1 0 0 1
PEX26 0 0 1 0 0 1
PEX6 0 0 1 0 0 1
PFKM 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PGM1 0 0 1 0 0 1
PHACTR1 0 0 1 0 0 1
PHGDH 0 1 0 0 0 1
PHIP 0 0 1 0 0 1
PHKA1 0 0 1 0 0 1
PHKG2 0 1 0 0 0 1
PIEZO1 0 0 1 0 0 1
PIGA 0 0 1 0 0 1
PIGO 0 0 1 0 0 1
PIGP 0 1 0 0 0 1
PIGT 0 0 1 0 0 1
PIK3R1 0 0 1 0 0 1
PINK1 0 0 1 0 0 1
PKD1, TSC2 1 0 0 0 0 1
PLA2G7 0 0 1 0 0 1
PLD3, PRX 0 1 0 0 0 1
PLK4 0 0 0 1 0 1
PLVAP 0 0 1 0 0 1
PLXND1 0 0 1 0 0 1
PMPCA 0 0 1 0 0 1
PNP 0 1 0 0 0 1
PNPLA1 0 0 1 0 0 1
PNPLA2 0 0 1 0 0 1
PNPO 0 1 0 0 0 1
PNPT1 0 0 0 1 0 1
POC1A 0 1 0 0 0 1
POLA1 0 0 1 0 0 1
POLG, POLGARF 0 0 1 0 0 1
POLR1B 0 0 1 0 0 1
POLR3F 0 0 1 0 0 1
POMGNT1 0 1 0 0 0 1
POMT2 0 0 1 0 0 1
POR 1 0 0 0 0 1
POT1 0 0 1 0 0 1
PPFIBP1 0 0 1 0 0 1
PPM1D 0 0 0 1 0 1
PPP1CB 1 0 0 0 0 1
PPP1R15B 0 0 1 0 0 1
PPP2CA 0 0 1 0 0 1
PPP2R1A 0 0 1 0 0 1
PRCC 0 0 1 0 0 1
PRDM16 0 0 1 0 0 1
PREPL 0 1 0 0 0 1
PRKCSH 0 0 0 0 1 1
PRKD1 0 0 1 0 0 1
PRKN 1 0 0 0 0 1
PRKRA 0 0 1 0 0 1
PROK2 0 0 1 0 0 1
PSEN1 0 1 0 0 0 1
PSEN2 0 0 1 0 0 1
PSMB9 0 1 0 0 0 1
PTCD3 0 1 0 0 0 1
PTCHD1 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PTPRC 0 0 1 0 0 1
PTPRQ 0 0 0 1 0 1
PUM1 0 0 1 0 0 1
PYCR2 0 1 0 0 0 1
QARS1 0 0 1 0 0 1
QRICH1 0 1 0 0 0 1
RAB11B 0 0 1 0 0 1
RAC1 0 1 0 0 0 1
RAD21 0 0 1 0 0 1
RAD51C 0 0 1 0 0 1
RAG1 1 0 0 0 0 1
RAG2 1 0 0 0 0 1
RALGAPA1 0 0 1 0 0 1
RARS1 1 0 0 0 0 1
RAX 0 0 1 0 0 1
RB1CC1 0 0 1 0 0 1
RBBP8 0 1 0 0 0 1
RBL2 0 0 1 0 0 1
RBM20 0 0 1 0 0 1
REEP2 0 0 1 0 0 1
RELA 0 1 0 0 0 1
RFXANK 0 1 0 0 0 1
RHOBTB2 0 0 1 0 0 1
RHOH 0 0 1 0 0 1
RNF113A 0 0 0 1 0 1
RNF13 0 0 1 0 0 1
ROR2 0 0 1 0 0 1
RPGRIP1 1 0 0 0 0 1
RPGRIP1L 0 0 1 0 0 1
RPL10 0 0 1 0 0 1
RPL11 1 0 0 0 0 1
RPL18 0 0 1 0 0 1
RPL27 0 0 1 0 0 1
RPS17 0 0 1 0 0 1
RREB1 0 0 0 1 0 1
RSRC1 0 0 1 0 0 1
RUNX2 0 1 0 0 0 1
RUVBL1, SEC61A1 0 0 1 0 0 1
SALL1 0 0 1 0 0 1
SALL4 0 0 1 0 0 1
SAMD12 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 1
SATB1 0 0 1 0 0 1
SCARB2 0 0 1 0 0 1
SCN11A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCN4A 0 0 1 0 0 1
SCO1 1 0 0 0 0 1
SDHAF2 0 0 1 0 0 1
SDHB 1 0 0 0 0 1
SDR9C7 1 0 0 0 0 1
SELENOI 0 0 1 0 0 1
SEMA3A 0 0 1 0 0 1
SEMA6B 1 0 0 0 0 1
SERAC1 0 0 1 0 0 1
SERPINA1 1 0 0 0 0 1
SERPINC1 0 1 0 0 0 1
SERPING1 1 0 0 0 0 1
SERPINH1 0 1 0 0 0 1
SH3BP2 0 0 1 0 0 1
SH3PXD2B 0 1 0 0 0 1
SI 0 0 1 0 0 1
SIL1 1 0 0 0 0 1
SIX5 0 0 1 0 0 1
SLC12A2 0 1 0 0 0 1
SLC12A6 1 0 0 0 0 1
SLC16A2 0 0 1 0 0 1
SLC19A1 0 0 1 0 0 1
SLC20A2 0 0 1 0 0 1
SLC25A20 0 0 1 0 0 1
SLC25A24 0 0 1 0 0 1
SLC25A26 0 1 0 0 0 1
SLC25A38 0 1 0 0 0 1
SLC26A2 1 0 0 0 0 1
SLC26A3 0 0 1 0 0 1
SLC29A3 0 0 1 0 0 1
SLC30A10 0 1 0 0 0 1
SLC30A9 0 0 1 0 0 1
SLC35C1 0 0 1 0 0 1
SLC39A8 0 0 1 0 0 1
SLC40A1 0 0 1 0 0 1
SLC6A1 0 1 0 0 0 1
SLC6A17 0 0 1 0 0 1
SLC6A19 1 0 0 0 0 1
SLC6A3 0 0 1 0 0 1
SLC6A5 0 1 0 0 0 1
SLC9A1 0 0 1 0 0 1
SLC9A6 0 0 1 0 0 1
SLC9A9 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMAD7 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SMARCAL1 1 0 0 0 0 1
SMARCB1 0 0 1 0 0 1
SMC1A 0 0 1 0 0 1
SNRPB 0 0 1 0 0 1
SNX14 1 0 0 0 0 1
SOCS1 0 0 1 0 0 1
SOD1 0 1 0 0 0 1
SOST 1 0 0 0 0 1
SP110, SP140 0 1 0 0 0 1
SPI1 0 0 1 0 0 1
SPPL2A 1 0 0 0 0 1
SPRED1 1 0 0 0 0 1
SPTB 0 0 1 0 0 1
SRD5A2 1 0 0 0 0 1
SRPRA 0 0 1 0 0 1
SRPX2 0 0 1 0 0 1
SRY 0 1 0 0 0 1
ST3GAL3 0 1 0 0 0 1
STAT4 0 0 1 0 0 1
STEAP3 0 0 1 0 0 1
STIM1 0 0 1 0 0 1
STS 0 0 1 0 0 1
STT3A 0 1 0 0 0 1
STUB1 0 1 0 0 0 1
STX11 0 0 1 0 0 1
STX1B 0 1 0 0 0 1
STXBP3 0 0 1 0 0 1
SYN1 0 0 1 0 0 1
SYNE1 0 1 0 0 0 1
SYP 0 0 1 0 0 1
TAB2 0 1 0 0 0 1
TAF1 0 0 1 0 0 1
TALDO1 0 0 1 0 0 1
TAPBPL, VAMP1 0 1 0 0 0 1
TARDBP 0 1 0 0 0 1
TARS2 0 0 1 0 0 1
TASP1 0 0 1 0 0 1
TBC1D24 1 0 0 0 0 1
TBC1D2B 0 1 0 0 0 1
TBCE 0 1 0 0 0 1
TBK1 0 0 1 0 0 1
TBX18 0 0 1 0 0 1
TBX2 0 0 1 0 0 1
TBX5 1 0 0 0 0 1
TCF12 0 1 0 0 0 1
TCF3 0 0 1 0 0 1
TELO2 1 0 0 0 0 1
TENT5A 0 0 1 0 0 1
TERT 0 0 1 0 0 1
TFE3 0 0 1 0 0 1
TFG 0 1 0 0 0 1
TG 0 0 1 0 0 1
TGFBR2 0 0 1 0 0 1
TIMMDC1 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TJP2 1 0 0 0 0 1
TK2 0 1 0 0 0 1
TKT 0 0 1 0 0 1
TLK1 0 0 1 0 0 1
TLR2 0 0 1 0 0 1
TLR8 0 0 1 0 0 1
TMC1 0 0 1 0 0 1
TMCO1 0 1 0 0 0 1
TMEM127 1 0 0 0 0 1
TMEM138 0 0 1 0 0 1
TMEM43 0 0 1 0 0 1
TMEM53 0 0 1 0 0 1
TMEM94 0 0 1 0 0 1
TMLHE 0 0 1 0 0 1
TNIK 0 0 1 0 0 1
TNNI2 0 0 1 0 0 1
TNNT2 0 1 0 0 0 1
TONSL 0 1 0 0 0 1
TOP2B 0 0 1 0 0 1
TOP3A 0 0 1 0 0 1
TOR1A 1 0 0 0 0 1
TP53BP1, TUBGCP4 0 1 0 0 0 1
TP63 0 1 0 0 0 1
TP73 0 1 0 0 0 1
TPM1 0 0 1 0 0 1
TPM3 0 1 0 0 0 1
TRAPPC2L 0 0 1 0 0 1
TRAPPC4 1 0 0 0 0 1
TRAPPC9 0 0 1 0 0 1
TRDN 0 0 1 0 0 1
TRIM37 0 1 0 0 0 1
TRIM71 0 0 1 0 0 1
TRIOBP 0 1 0 0 0 1
TRIT1 1 1 0 0 0 1
TRMT10A 0 1 0 0 0 1
TRMT10C 0 1 0 0 0 1
TRPC3 0 0 1 0 0 1
TRPM6 0 0 1 0 0 1
TRPM7 0 0 1 0 0 1
TSC1 0 1 0 0 0 1
TSHR 1 0 0 0 0 1
TSHZ1 0 0 1 0 0 1
TTC19 1 0 0 0 0 1
TTC21B 1 0 0 0 0 1
TTC7A 0 0 0 1 0 1
TUBA1A 1 0 0 0 0 1
TUBA8 0 0 1 0 0 1
TUBB2B 0 0 1 0 0 1
TUBB3 0 0 1 0 0 1
TUBGCP4 0 1 0 0 0 1
TWNK 1 0 0 0 0 1
UBA2 0 1 0 0 0 1
UBE2T 0 0 1 0 0 1
UMOD 0 0 1 0 0 1
UNC119 0 0 1 0 0 1
UPF3B 0 0 1 0 0 1
UROC1 0 0 1 0 0 1
UROD 0 0 1 0 0 1
UROS 1 0 0 0 0 1
USH1C 0 0 0 1 0 1
USP9X 0 0 1 0 0 1
VMA21 0 0 0 1 0 1
VMA22 0 0 1 0 0 1
VPS13C 0 1 0 0 0 1
VPS16 0 0 1 0 0 1
VPS41 0 1 0 0 0 1
VPS4A 0 0 1 0 0 1
VSNL1 0 0 1 0 0 1
VWA1 1 0 0 0 0 1
VWF 0 0 1 0 0 1
WASF1 0 0 1 0 0 1
WASHC5 0 0 1 0 0 1
WIPF1 0 0 1 0 0 1
WIPI2 0 0 1 0 0 1
WNK1 0 0 1 0 0 1
WNT1 0 1 0 0 0 1
WNT5A 0 0 1 0 0 1
XK 0 0 1 0 0 1
XPA 0 1 0 0 0 1
XPR1 0 0 1 0 0 1
ZBTB16 0 0 1 0 0 1
ZIC1 0 0 1 0 0 1
ZMYM3 0 0 1 0 0 1
ZMYND11 0 0 1 0 0 1
ZMYND8 0 0 1 0 0 1
ZNF148 0 0 1 0 0 1
ZSWIM7 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1601
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
See cases 123 205 796 107 23 1254
Familial cancer of breast 12 4 40 0 0 56
KBG syndrome 5 19 10 0 0 34
Breast-ovarian cancer, familial, susceptibility to, 2 7 4 13 0 0 24
Coffin-Siris syndrome 1 0 14 5 0 0 19
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 11 4 0 0 17
Kleefstra syndrome 2 0 1 16 0 0 17
Breast-ovarian cancer, familial, susceptibility to, 1 14 1 1 0 0 16
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 5 11 0 0 16
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 2 14 0 0 16
Wiedemann-Steiner syndrome 1 8 7 0 0 16
Intellectual disability, autosomal dominant 43 0 2 13 0 0 15
Neurofibromatosis, type 1 8 6 1 0 0 15
Sotos syndrome 4 6 5 0 0 15
Cornelia de Lange syndrome 1 0 4 10 0 0 14
Intellectual developmental disorder with autism and macrocephaly 0 3 11 0 0 14
Intellectual disability, X-linked syndromic, Turner type 0 0 14 0 0 14
Radio-Tartaglia syndrome 0 3 11 0 0 14
Polycystic kidney disease, adult type 5 2 6 0 0 13
Familial cold autoinflammatory syndrome 2 0 1 11 0 0 12
Lynch syndrome 5 0 4 8 0 0 12
Snijders Blok-Campeau syndrome 0 0 12 0 0 12
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 10 0 0 11
Familial adenomatous polyposis 1 5 1 5 0 0 11
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 11 0 0 11
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 7 3 1 0 0 11
Weiss-Kruszka syndrome 0 0 11 0 0 11
Intellectual developmental disorder, autosomal dominant 65 0 1 9 0 0 10
Intellectual disability, autosomal dominant 5 1 3 6 0 0 10
Kleefstra syndrome 1 3 1 6 0 0 10
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 2 8 0 0 10
Polycystic kidney disease 4 6 1 3 0 0 10
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 4 5 0 0 9
Immunodeficiency, common variable, 12 0 3 6 0 0 9
Intellectual developmental disorder, autosomal dominant 64 0 2 7 0 0 9
Lynch syndrome 1 3 2 4 0 0 9
Mandibulofacial dysostosis-microcephaly syndrome 0 5 4 0 0 9
Parenti-mignot neurodevelopmental syndrome 0 0 9 0 0 9
Developmental delay, impaired speech, and behavioral abnormalities 0 1 7 0 0 8
Familial adenomatous polyposis 2 4 1 3 0 0 8
Intellectual developmental disorder, autosomal dominant 72 0 2 6 0 0 8
Intellectual disability, autosomal dominant 52 0 0 8 0 0 8
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 1 7 0 0 8
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 8 0 0 8
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 2 6 0 0 8
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 2 4 0 0 8
ZTTK syndrome 2 3 3 0 0 8
Alstrom syndrome 4 0 3 0 0 7
Autism spectrum disorder due to AUTS2 deficiency 0 2 5 0 0 7
Bardet-Biedl syndrome 1 2 4 1 0 0 7
Coffin-Siris syndrome 6 1 0 6 0 0 7
Colorectal cancer, hereditary nonpolyposis, type 2 5 0 2 0 0 7
Combined immunodeficiency due to DOCK8 deficiency 0 1 6 0 0 7
Combined immunodeficiency due to LRBA deficiency 0 3 4 0 0 7
Developmental and epileptic encephalopathy, 4 2 2 3 0 0 7
Developmental and epileptic encephalopathy, 57 0 0 7 0 0 7
Fanconi anemia complementation group A 2 0 5 0 0 7
Glycine encephalopathy 1 2 2 3 0 0 7
Immunodeficiency 77 0 0 7 0 0 7
Immunodeficiency, common variable, 2 0 3 4 0 0 7
Intellectual developmental disorder with autism and speech delay 1 0 6 0 0 7
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 7 0 0 7
Intellectual disability, X-linked 104 0 0 7 0 0 7
Intellectual disability, autosomal dominant 45 0 0 7 0 0 7
Intellectual disability, autosomal dominant 50 1 4 2 0 0 7
Li-Fraumeni syndrome 1 2 2 3 0 0 7
Lissencephaly 9 with complex brainstem malformation 0 1 6 0 0 7
Microcephaly 18, primary, autosomal dominant 0 5 2 0 0 7
Microcephaly 5, primary, autosomal recessive 5 1 1 0 0 7
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 2 5 0 0 7
Multiple acyl-CoA dehydrogenase deficiency 1 2 4 0 0 7
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 1 6 0 0 7
Nijmegen breakage syndrome-like disorder 1 2 4 0 0 7
Nizon-Isidor syndrome 0 1 6 0 0 7
Pilarowski-Bjornsson syndrome 0 0 7 0 0 7
Primary ciliary dyskinesia 5 1 2 4 0 0 7
Rauch-Steindl syndrome 0 2 5 0 0 7
SIN3A-related intellectual disability syndrome due to a point mutation 1 2 4 0 0 7
Syndromic X-linked intellectual disability Siderius type 0 3 4 0 0 7
TTN-related disorder 1 6 0 0 0 7
X-linked Alport syndrome 3 3 1 0 0 7
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 2 4 0 0 6
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 6 0 0 6
Charlevoix-Saguenay spastic ataxia 3 3 0 0 0 6
Chopra-Amiel-Gordon syndrome 0 1 5 0 0 6
Coffin-Siris syndrome 12 0 0 6 0 0 6
Coffin-Siris syndrome 8 0 1 5 0 0 6
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 6 0 0 6
Cystic fibrosis 4 0 2 0 0 6
DeSanto-Shinawi syndrome due to WAC point mutation 0 3 3 0 0 6
Developmental and epileptic encephalopathy, 2 0 4 2 0 0 6
Developmental and epileptic encephalopathy, 42 0 2 4 0 0 6
Developmental and epileptic encephalopathy, 5 0 0 6 0 0 6
Developmental and epileptic encephalopathy, 54 1 5 0 0 0 6
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 1 4 0 0 6
Diets-Jongmans syndrome 0 1 5 0 0 6
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 4 2 0 0 6
Endometrial carcinoma 1 0 5 0 0 6
Global developmental delay with speech and behavioral abnormalities 0 3 3 0 0 6
Hereditary spastic paraplegia 7 3 1 2 0 0 6
Hypercholesterolemia, familial, 1 2 1 3 0 0 6
Immunodeficiency, common variable, 10 0 1 5 0 0 6
Intellectual developmental disorder 61 0 0 6 0 0 6
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 5 0 0 6
Intellectual developmental disorder with dysmorphic facies and ptosis 0 2 4 0 0 6
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 2 4 0 0 6
Intellectual disability, X-linked 102 0 3 3 0 0 6
Kabuki syndrome 1 1 2 3 0 0 6
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 1 5 0 0 6
Marfan syndrome 1 4 1 0 0 6
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 3 1 2 0 0 6
Myopathy, proximal, and ophthalmoplegia 1 2 3 0 0 6
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 1 5 0 0 6
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 6 0 0 6
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 2 4 0 0 6
PMM2-congenital disorder of glycosylation 5 0 1 0 0 6
Schaaf-Yang syndrome 1 2 3 0 0 6
Seizures, early-onset, with neurodegeneration and brain calcifications 0 2 4 0 0 6
Tolchin-Le Caignec syndrome 0 0 6 0 0 6
X-linked lymphoproliferative disease due to XIAP deficiency 1 3 2 0 0 6
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 2 3 0 0 5
8q24.3 microdeletion syndrome 0 5 0 0 0 5
Aneurysm-osteoarthritis syndrome 0 2 3 0 0 5
Bardet-Biedl syndrome 10 1 2 2 0 0 5
Cataract 1 multiple types 0 1 4 0 0 5
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 5 0 0 5
Colorectal cancer, susceptibility to, 12 0 0 5 0 0 5
Creatine transporter deficiency 0 2 3 0 0 5
Dermatitis, atopic, 2 2 2 1 0 0 5
Fanconi anemia complementation group E 2 2 1 0 0 5
Fraser syndrome 1 3 1 1 0 0 5
Galactosylceramide beta-galactosidase deficiency 1 3 1 0 0 5
Glycogen storage disease IXb 2 0 3 0 0 5
Growth delay due to insulin-like growth factor I resistance 0 0 5 0 0 5
Hereditary breast ovarian cancer syndrome 3 0 2 0 0 5
Hyperimmunoglobulin D with periodic fever 1 3 1 0 0 5
Ichthyosis vulgaris 4 0 1 0 0 5
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 1 4 0 0 5
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 4 0 0 5
Intellectual developmental disorder with seizures and language delay 0 1 4 0 0 5
Intellectual disability, autosomal dominant 14 0 0 5 0 0 5
Kabuki syndrome 2 0 1 4 0 0 5
Landau-Kleffner syndrome 0 2 3 0 0 5
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 1 2 0 0 5
Malignant hyperthermia, susceptibility to, 1 1 3 1 0 0 5
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2 2 1 0 0 5
Microcephaly and chorioretinopathy 1 1 2 2 0 0 5
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 2 1 0 0 5
Nephrotic syndrome, type 3 2 2 1 0 0 5
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 5 0 0 5
Noonan syndrome 1 5 0 0 0 0 5
Osteogenesis imperfecta type 7 2 2 1 0 0 5
Osteogenesis imperfecta with normal sclerae, dominant form 1 4 0 0 0 5
Recessive dystrophic epidermolysis bullosa 3 2 0 0 0 5
Sessile serrated polyposis cancer syndrome 0 1 4 0 0 5
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 2 3 0 0 5
X-linked agammaglobulinemia 3 2 0 0 0 5
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 1 2 0 0 4
Asphyxiating thoracic dystrophy 3 0 1 3 0 0 4
Au-Kline syndrome 0 1 3 0 0 4
Auriculocondylar syndrome 2 0 0 4 0 0 4
Autoinflammation, immune dysregulation, and eosinophilia 0 0 4 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 4 0 0 4
Beck-Fahrner syndrome 0 0 4 0 0 4
Biotinidase deficiency 3 1 0 0 0 4
Bloom syndrome 2 0 2 0 0 4
Breast carcinoma 0 0 4 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 3 0 0 4
Combined oxidative phosphorylation deficiency 55 0 0 4 0 0 4
Craniofrontonasal syndrome 1 2 1 0 0 4
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 1 0 0 4
Developmental and epileptic encephalopathy, 26 0 1 3 0 0 4
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 4 0 0 4
Familial adenomatous polyposis 3 1 1 2 0 0 4
Fanconi anemia complementation group D2 0 1 3 0 0 4
Focal dermal hypoplasia 1 2 1 0 0 4
Glutaric aciduria, type 1 2 1 1 0 0 4
Glycine encephalopathy 0 2 2 0 0 4
Glycogen storage disease IXa1 0 0 4 0 0 4
Hao-Fountain syndrome due to USP7 mutation 0 1 3 0 0 4
Hereditary spastic paraplegia 4 3 0 1 0 0 4
Hyper-IgM syndrome type 1 1 3 0 0 0 4
Immunodeficiency 60 0 0 4 0 0 4
Immunodeficiency 82 with systemic inflammation 0 0 4 0 0 4
Immunodeficiency 85 and autoimmunity 0 0 4 0 0 4
Infantile neuroaxonal dystrophy 1 0 3 0 0 4
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 0 4 0 0 4
Intellectual disability, X-linked 1 0 1 3 0 0 4
Intellectual disability, autosomal dominant 1 0 0 4 0 0 4
Intellectual disability, autosomal dominant 22 0 0 4 0 0 4
Intellectual disability, autosomal dominant 39 0 1 3 0 0 4
Intellectual disability, autosomal dominant 46 0 0 4 0 0 4
Intellectual disability, autosomal dominant 56 0 3 1 0 0 4
Koolen-de Vries syndrome 0 1 3 0 0 4
Leukocyte adhesion deficiency 1 2 1 1 0 0 4
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 0 4 0 0 4
Methylmalonic acidemia with homocystinuria, type cblX 0 0 4 0 0 4
Mitochondrial complex I deficiency, nuclear type 4 1 0 3 0 0 4
Mucopolysaccharidosis, MPS-II 3 0 1 0 0 4
Muscular dystrophy, limb-girdle, autosomal recessive 23 4 0 0 0 0 4
Netherton syndrome 2 2 0 0 0 4
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 3 0 0 4
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 4 0 0 0 4
Neurooculocardiogenitourinary syndrome 0 0 4 0 0 4
O'Donnell-Luria-Rodan syndrome 0 0 4 0 0 4
Oculogastrointestinal-neurodevelopmental syndrome 0 1 3 0 0 4
Osteogenesis imperfecta type I 2 2 0 0 0 4
Osteogenesis imperfecta, perinatal lethal 1 3 0 0 0 4
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 3 0 0 4
Peutz-Jeghers syndrome 1 1 2 0 0 4
Phelan-McDermid syndrome 1 1 2 0 0 4
Phenylketonuria 3 0 1 0 0 4
Poirier-Bienvenu neurodevelopmental syndrome 1 0 3 0 0 4
Primary ciliary dyskinesia 29 2 1 1 0 0 4
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 0 0 4 0 0 4
Ritscher-Schinzel syndrome 4 0 0 4 0 0 4
SLC35A2-congenital disorder of glycosylation 0 0 4 0 0 4
Sandhoff disease 0 3 1 0 0 4
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 0 4 0 0 4
Shashi-Pena syndrome 0 1 3 0 0 4
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 2 2 0 0 4
Sifrim-Hitz-Weiss syndrome 0 0 4 0 0 4
Skraban-Deardorff syndrome 0 2 2 0 0 4
Spinocerebellar ataxia type 13 0 0 4 0 0 4
Stankiewicz-Isidor syndrome 0 1 3 0 0 4
Treacher Collins syndrome 1 1 1 2 0 0 4
Usher syndrome type 2A 2 0 2 0 0 4
VPS13A-related neurodegenerative disease 0 1 3 0 0 4
X-linked intellectual disability, Cantagrel type 1 1 2 0 0 4
Xeroderma pigmentosum, group C 1 2 1 0 0 4
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 2 0 0 3
Acrofacial dysostosis Cincinnati type 0 0 3 0 0 3
Acyl-CoA dehydrogenase 9 deficiency 1 2 0 0 0 3
Adrenoleukodystrophy 2 0 1 0 0 3
Alagille syndrome due to a JAG1 point mutation 1 2 0 0 0 3
Amyotrophic lateral sclerosis type 19 0 0 3 0 0 3
Angelman syndrome 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia 10 0 1 2 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 3 0 0 0 3
Ataxia-telangiectasia syndrome 1 1 1 0 0 3
Atrial conduction disease 0 0 3 0 0 3
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 1 0 2 0 0 3
Autoimmune interstitial lung disease-arthritis syndrome 2 0 1 0 0 3
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 3 0 0 3
Autosomal dominant optic atrophy classic form 1 1 1 0 0 3
Autosomal recessive congenital ichthyosis 1 1 1 1 0 0 3
Autosomal systemic lupus erythematosus type 16 1 0 2 0 0 3
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 0 0 3 0 0 3
Bethlem myopathy 1A 0 1 2 0 0 3
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 3 0 0 3
CHARGE syndrome 2 0 1 0 0 3
Cardiomyopathy, familial hypertrophic 27 1 2 0 0 0 3
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 3 0 0 3
Clark-Baraitser syndrome 0 0 3 0 0 3
Cobalamin C disease 3 0 0 0 0 3
Cobblestone lissencephaly without muscular or ocular involvement 0 1 2 0 0 3
Coffin-Siris syndrome 10 0 0 3 0 0 3
Coffin-Siris syndrome 11 0 0 3 0 0 3
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 3 0 0 3
Cognitive impairment with or without cerebellar ataxia 0 0 3 0 0 3
Colorectal cancer, susceptibility to, 10 0 0 3 0 0 3
Combined oxidative phosphorylation deficiency 39 0 2 1 0 0 3
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 1 2 0 0 0 3
Congenital heart defects, multiple types, 2 0 3 0 0 0 3
Cornelia de Lange syndrome 5 1 2 0 0 0 3
Cystinuria 2 0 1 0 0 3
DDX41-related hematologic malignancy predisposition syndrome 1 2 0 0 0 3
DYRK1A-related intellectual disability syndrome 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 11 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 14 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 67 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 7 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 84 0 0 3 0 0 3
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 3 0 0 3
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 3 0 0 3
Dias-Logan syndrome 0 0 3 0 0 3
Dilated cardiomyopathy 1G 0 1 2 0 0 3
Dystonia 16 1 0 2 0 0 3
Ehlers-Danlos syndrome, classic type, 2 0 1 2 0 0 3
Ellis-van Creveld syndrome 1 2 0 0 0 3
Enterokinase deficiency 0 1 2 0 0 3
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 2 0 0 3
FRAXE 0 0 3 0 0 3
Familial adenomatous polyposis 4 0 0 3 0 0 3
Focal segmental glomerulosclerosis 6 0 0 3 0 0 3
Genitopatellar syndrome 0 1 2 0 0 3
Genitourinary and/or brain malformation syndrome 0 1 2 0 0 3
Giant axonal neuropathy 1 0 2 1 0 0 3
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 2 0 0 3
Glycogen storage disease, type II 3 0 0 0 0 3
Glycogen storage disease, type V 2 1 0 0 0 3
Granulocytopenia with immunoglobulin abnormality 0 0 3 0 0 3
Hereditary diffuse gastric adenocarcinoma 0 1 2 0 0 3
Hereditary spastic paraplegia 50 1 1 1 0 0 3
Hereditary spastic paraplegia 52 1 1 1 0 0 3
Heterotaxy, visceral, 7, autosomal 1 1 1 0 0 3
Holoprosencephaly 12 with or without pancreatic agenesis 1 0 2 0 0 3
Hyaline fibromatosis syndrome 1 2 0 0 0 3
Hyper-IgM syndrome type 2 0 3 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 4 1 2 0 0 0 3
Hypotonia, ataxia, and delayed development syndrome 0 0 3 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 1 0 0 0 3
Immunodeficiency 104 2 1 0 0 0 3
Immunodeficiency 35 0 0 3 0 0 3
Immunodeficiency 62 0 0 3 0 0 3
Immunodeficiency 64 0 2 1 0 0 3
Immunodeficiency 84 0 0 3 0 0 3
Immunodeficiency, common variable, 14 0 1 2 0 0 3
Immunodeficiency, common variable, 7 0 1 2 0 0 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 0 3 0 0 3
Intellectual developmental disorder 62 0 1 2 0 0 3
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 3 0 0 3
Intellectual developmental disorder with hypertelorism and distinctive facies 0 0 3 0 0 3
Intellectual developmental disorder, X-linked 108 0 0 3 0 0 3
Intellectual disability, X-linked 49 0 0 3 0 0 3
Intellectual disability, X-linked 93 0 1 2 0 0 3
Intellectual disability, X-linked 97 0 1 2 0 0 3
Intellectual disability, X-linked, syndromic, Houge type 0 0 3 0 0 3
Intellectual disability, autosomal dominant 13 0 0 3 0 0 3
Intellectual disability, autosomal recessive 65 0 3 0 0 0 3
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 2 0 0 3
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 0 2 0 0 3
Joubert syndrome 33 0 0 3 0 0 3
Karyomegalic interstitial nephritis 0 3 0 0 0 3
Lethal osteosclerotic bone dysplasia 0 0 3 0 0 3
Leydig cell agenesis 0 2 1 0 0 3
Lowe syndrome 0 2 1 0 0 3
Lymphoproliferative syndrome 1 0 1 2 0 0 3
MPI-congenital disorder of glycosylation 0 3 0 0 0 3
Macrocephaly, acquired, with impaired intellectual development 0 2 1 0 0 3
Macrocephaly-autism syndrome 2 0 1 0 0 3
Microcephalic primordial dwarfism due to RTTN deficiency 0 1 2 0 0 3
Microcephaly 1, primary, autosomal recessive 0 2 1 0 0 3
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 1 0 0 3
Microcornea-myopic chorioretinal atrophy 0 2 1 0 0 3
Mitochondrial DNA depletion syndrome 20 (mngie type) 0 1 2 0 0 3
Mowat-Wilson syndrome 0 1 2 0 0 3
Muir-Torré syndrome 2 1 0 0 0 3
Neurodegeneration with brain iron accumulation 5 1 0 2 0 0 3
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 1 2 0 0 3
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 3 0 0 3
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 3 0 0 3
Neuronal ceroid lipofuscinosis 3 2 0 1 0 0 3
Neuroocular syndrome 1 0 1 2 0 0 3
Noonan syndrome-like disorder with loose anagen hair 1 1 0 2 0 0 3
Oculofaciocardiodental syndrome 0 1 2 0 0 3
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 1 0 2 0 0 3
Osteogenesis imperfecta type 11 1 1 1 0 0 3
Osteogenesis imperfecta type 6 1 2 0 0 0 3
Osteogenesis imperfecta type 8 2 0 1 0 0 3
Periventricular nodular heterotopia 6 0 0 3 0 0 3
Pheochromocytoma 1 2 0 0 0 3
Polycystic kidney disease 2 1 1 1 0 0 3
Polyglandular autoimmune syndrome, type 1 2 0 1 0 0 3
Pontocerebellar hypoplasia type 6 0 0 3 0 0 3
Primary ciliary dyskinesia 15 3 0 0 0 0 3
Primary ciliary dyskinesia 17 1 1 1 0 0 3
Primary coenzyme Q10 deficiency 8 0 3 0 0 0 3
Progressive familial intrahepatic cholestasis type 3 1 0 2 0 0 3
Prolidase deficiency 0 1 2 0 0 3
Propionic acidemia 1 1 1 0 0 3
Proteasome-associated autoinflammatory syndrome 1 1 1 1 0 0 3
Pyknodysostosis 2 0 1 0 0 3
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 3 0 0 3
Rahman syndrome 0 0 3 0 0 3
Renal tubular acidosis with progressive nerve deafness 1 0 2 0 0 3
Renpenning syndrome 2 0 1 0 0 3
Retinitis pigmentosa 25 2 0 1 0 0 3
Retinoblastoma 1 2 0 0 0 3
Rett syndrome 2 0 1 0 0 3
Rhabdomyolysis, susceptibility to, 1 0 1 2 0 0 3
Schuurs-Hoeijmakers syndrome 0 0 3 0 0 3
Severe myoclonic epilepsy in infancy 0 1 2 0 0 3
Shprintzen-Goldberg syndrome 0 0 3 0 0 3
Smith-Lemli-Opitz syndrome 1 1 1 0 0 3
Smith-Magenis syndrome 0 0 3 0 0 3
Snijders blok-fisher syndrome 0 0 3 0 0 3
Spastic paraplegia 80, autosomal dominant 0 1 2 0 0 3
Spondylocostal dysostosis 5 0 0 3 0 0 3
Telangiectasia, hereditary hemorrhagic, type 2 0 0 3 0 0 3
Tyrosinemia type I 1 0 2 0 0 3
Ullrich congenital muscular dystrophy 1A 0 0 3 0 0 3
Very long chain acyl-CoA dehydrogenase deficiency 0 2 1 0 0 3
Vici syndrome 0 1 2 0 0 3
Von Hippel-Lindau syndrome 2 1 0 0 0 3
White-Kernohan syndrome 0 0 3 0 0 3
Wilson disease 2 1 0 0 0 3
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 2 1 0 0 3
X-linked intellectual disability-short stature-overweight syndrome 0 0 3 0 0 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 0 2 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 1 0 0 2
3M syndrome 1 1 0 1 0 0 2
3M syndrome 2 1 0 1 0 0 2
3MC syndrome 2 0 0 2 0 0 2
46,XY sex reversal 6 0 0 2 0 0 2
5-Oxoprolinase deficiency 0 0 2 0 0 2
Abortive cerebellar ataxia 1 1 0 0 0 2
Acrodysostosis 2 with or without hormone resistance 0 0 2 0 0 2
Adams-Oliver syndrome 1 0 0 2 0 0 2
Aicardi-Goutieres syndrome 1 0 0 2 0 0 2
Aicardi-Goutieres syndrome 2 2 0 0 0 0 2
Aicardi-Goutieres syndrome 4 0 1 1 0 0 2
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 2 0 0 2
Alkaptonuria 0 0 2 0 0 2
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 2 0 0 2
Alternating hemiplegia of childhood 2 2 0 0 0 0 2
Androgen resistance syndrome 0 2 0 0 0 2
Anophthalmia/microphthalmia-esophageal atresia syndrome 2 0 0 0 0 2
Anterior segment dysgenesis 7 0 1 1 0 0 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2 0 0 0 0 2
Arginase deficiency 1 1 0 0 0 2
Argininosuccinate lyase deficiency 2 0 0 0 0 2
Aromatase deficiency 0 1 1 0 0 2
Arthrogryposis multiplex congenita 5 1 0 1 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 1 1 0 0 0 2
Ataxia-pancytopenia syndrome 0 0 2 0 0 2
Auditory neuropathy-optic atrophy syndrome 0 1 1 0 0 2
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 2 0 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 1 0 0 0 2
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0 0 2 0 0 2
Autosomal dominant Parkinson disease 8 0 1 1 0 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 2 0 0 2
Autosomal recessive congenital ichthyosis 6 1 0 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 35 0 0 2 0 0 2
Autosomal recessive spastic paraplegia type 76 2 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 10 0 0 2 0 0 2
BAP1-related tumor predisposition syndrome 0 0 2 0 0 2
Baraitser-Winter syndrome 1 0 1 1 0 0 2
Bardet-Biedl syndrome 12 2 0 0 0 0 2
Barrett esophagus 0 0 2 0 0 2
Beta-thalassemia HBB/LCRB 1 1 0 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 1 0 0 0 2
Borjeson-Forssman-Lehmann syndrome 0 0 2 0 0 2
Brain malformations with or without urinary tract defects 0 0 2 0 0 2
Brittle cornea syndrome 1 0 0 2 0 0 2
Brown-Vialetto-van Laere syndrome 2 0 1 1 0 0 2
Bruck syndrome 2 0 1 1 0 0 2
CHEK2-related cancer predisposition 0 1 1 0 0 2
COG1 congenital disorder of glycosylation 0 0 2 0 0 2
COG5-congenital disorder of glycosylation 0 0 2 0 0 2
COG7 congenital disorder of glycosylation 0 0 2 0 0 2
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 2 0 0 0 2
Cardiac, facial, and digital anomalies with developmental delay 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 4 0 0 2 0 0 2
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 1 1 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 2 0 0 2
Cerebellar-facial-dental syndrome 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2O 0 1 1 0 0 2
Childhood hypophosphatasia 1 1 0 0 0 2
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 1 0 0 2
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 0 2 0 0 2
Chromosome 2q37 deletion syndrome 2 0 0 0 0 2
Chuvash polycythemia 0 0 2 0 0 2
Chédiak-Higashi syndrome 0 1 1 0 0 2
Coffin-Siris syndrome 7 0 0 2 0 0 2
Colorectal cancer 0 0 2 0 0 2
Combined immunodeficiency due to CD3gamma deficiency 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 20 1 0 1 0 0 2
Combined oxidative phosphorylation defect type 24 1 0 1 0 0 2
Combined oxidative phosphorylation deficiency 44 0 1 1 0 0 2
Complement component 3 deficiency 0 2 0 0 0 2
Cone-rod dystrophy 15 0 0 2 0 0 2
Cone-rod dystrophy and hearing loss 2 2 0 0 0 0 2
Congenital contractural arachnodactyly 0 1 1 0 0 2
Congenital diarrhea 6 0 0 2 0 0 2
Congenital glucose-galactose malabsorption 1 1 0 0 0 2
Congenital heart defects, multiple types, 5 0 0 2 0 0 2
Congenital multicore myopathy with external ophthalmoplegia 1 0 1 0 0 2
Cowden syndrome 1 0 2 0 0 0 2
Cowden syndrome 4 0 0 2 0 0 2
Cowden syndrome 7 0 0 2 0 0 2
Cutis laxa, autosomal recessive, type 2E 0 0 2 0 0 2
Cyclical neutropenia 0 2 0 0 0 2
DEGCAGS syndrome 0 1 1 0 0 2
DNA ligase IV deficiency 1 0 1 0 0 2
DOCK2 deficiency 0 0 2 0 0 2
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 2 0 0 2
Desmoid disease, hereditary 0 0 2 0 0 2
Developmental and epileptic encephalopathy 94 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 31A 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 32 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 36 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 39 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 50 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 65 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 69 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 76 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 79 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 87 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 9 0 1 1 0 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 0 2
Developmental delay with or without dysmorphic facies and autism 0 0 2 0 0 2
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 1 0 0 2
Developmental delay with variable neurologic and brain abnormalities 0 0 2 0 0 2
Diamond-Blackfan anemia 10 0 0 2 0 0 2
Diamond-Blackfan anemia 6 0 2 0 0 0 2
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 1 1 0 0 2
Dihydropyrimidinase deficiency 0 1 1 0 0 2
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 0 2 0 0 2
Distal arthrogryposis type 5D 1 0 1 0 0 2
Donnai-Barrow syndrome 0 2 0 0 0 2
Dystonia 5 0 0 2 0 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 2 0 0 2
Ectodermal dysplasia and immunodeficiency 2 0 0 2 0 0 2
Ehlers-Danlos syndrome, classic type, 1 1 0 1 0 0 2
Ehlers-Danlos syndrome, musculocontractural type 1 0 0 2 0 0 2
Epilepsy, familial temporal lobe, 1 0 1 1 0 0 2
FG syndrome 4 0 0 2 0 0 2
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 1 0 0 0 2
Familial acute necrotizing encephalopathy 0 0 2 0 0 2
Familial cold autoinflammatory syndrome 4 0 0 2 0 0 2
Fanconi anemia complementation group C 2 0 0 0 0 2
Fanconi anemia complementation group G 1 1 0 0 0 2
Fanconi anemia complementation group I 0 1 1 0 0 2
Fanconi anemia complementation group J 1 1 0 0 0 2
Fanconi anemia complementation group Q 0 0 2 0 0 2
Fanconi anemia complementation group U 0 1 1 0 0 2
Floating-Harbor syndrome 1 0 1 0 0 2
Focal segmental glomerulosclerosis 1 0 0 2 0 0 2
GM1 gangliosidosis type 3 2 0 0 0 0 2
Galloway-Mowat syndrome 1 1 1 0 0 0 2
Glaucoma 3A 2 0 0 0 0 2
Global developmental delay with or without impaired intellectual development 0 1 1 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 2 0 0 2
Granulomatous disease, chronic, X-linked 0 0 2 0 0 2
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2 0 0 0 0 2
Hao-Fountain syndrome 0 0 2 0 0 2
Hearing loss, autosomal dominant 37 0 1 1 0 0 2
Hemochromatosis type 1 1 0 1 0 0 2
Hereditary fructosuria 0 0 2 0 0 2
Hereditary intrinsic factor deficiency 1 1 0 0 0 2
Hereditary pancreatitis 1 0 1 0 0 2
Hereditary spastic paraplegia 11 0 1 1 0 0 2
Hereditary spastic paraplegia 12 0 0 2 0 0 2
Hereditary spastic paraplegia 73 0 0 2 0 0 2
Heterotaxy, visceral, 8, autosomal 0 1 1 0 0 2
Holoprosencephaly 9 0 1 1 0 0 2
Houge-Janssens syndrome 1 0 1 1 0 0 2
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 2 0 0 0 2
Hyperinsulinism-hyperammonemia syndrome 0 0 2 0 0 2
Hyperkalemic periodic paralysis 0 0 2 0 0 2
Hypochondroplasia 2 0 0 0 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 1 0 0 2
Hypohidrotic X-linked ectodermal dysplasia 0 1 1 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 2 0 0 2
Immunodeficiency 102 1 1 0 0 0 2
Immunodeficiency 47 0 1 1 0 0 2
Immunodeficiency 51 0 0 2 0 0 2
Immunodeficiency 91 and hyperinflammation 0 0 2 0 0 2
Immunodeficiency 96 0 1 1 0 0 2
Immunodeficiency 97 with autoinflammation 0 0 2 0 0 2
Immunodeficiency, developmental delay, and hypohomocysteinemia 0 0 2 0 0 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 1 1 0 0 2
Infantile GM1 gangliosidosis 2 0 0 0 0 2
Infantile hypophosphatasia 1 1 0 0 0 2
Infantile liver failure syndrome 2 0 0 2 0 0 2
Inflammatory bowel disease 30 0 0 2 0 0 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 2 0 0 0 2
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 0 2 0 0 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 2 0 0 2
Intellectual developmental disorder, X-linked 111 0 0 2 0 0 2
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 1 0 0 0 2
Intellectual disability, FRA12A type 0 0 2 0 0 2
Intellectual disability, X-linked 101 0 0 2 0 0 2
Intellectual disability, X-linked 106 0 0 2 0 0 2
Intellectual disability, X-linked 19 1 0 1 0 0 2
Intellectual disability, X-linked 58 0 0 2 0 0 2
Intellectual disability, autosomal dominant 11 0 0 2 0 0 2
Intellectual disability, autosomal dominant 24 0 1 1 0 0 2
Intellectual disability, autosomal dominant 3 0 0 2 0 0 2
Intellectual disability, autosomal dominant 47 0 1 1 0 0 2
Intellectual disability, autosomal dominant 57 0 0 2 0 0 2
Intellectual disability, autosomal dominant 58 0 1 1 0 0 2
Intellectual disability, autosomal recessive 42 0 1 1 0 0 2
Intellectual disability, autosomal recessive 5 0 0 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 2 0 0 0 2
Joubert syndrome 17 0 1 1 0 0 2
Joubert syndrome 26 0 0 2 0 0 2
Joubert syndrome 6 0 0 2 0 0 2
Junctional epidermolysis bullosa gravis of Herlitz 1 0 1 0 0 2
Junctional epidermolysis bullosa, non-Herlitz type 1 1 0 0 0 2
Kartagener syndrome 1 0 1 0 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 1 0 0 2
Knobloch syndrome 1 1 1 0 0 0 2
Lamb-Shaffer syndrome 0 1 1 0 0 2
Leber-like hereditary optic neuropathy, autosomal recessive 1 0 1 1 0 0 2
Lethal Kniest-like syndrome 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 2 0 0 2
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 1 0 0 0 2
Lissencephaly 8 0 1 1 0 0 2
Loeys-Dietz syndrome 4 1 0 1 0 0 2
Long QT syndrome 2 0 2 0 0 0 2
Luo-Schoch-Yamamoto syndrome 0 0 2 0 0 2
Luscan-Lumish syndrome 0 0 2 0 0 2
Lynch syndrome 4 1 1 0 0 0 2
MYH7-related disorder 0 2 0 0 0 2
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 0 2 0 0 2
Macrocephaly-developmental delay syndrome 0 1 1 0 0 2
Mandibular hypoplasia-deafness-progeroid syndrome 1 0 1 0 0 2
Maple syrup urine disease 1 1 0 0 0 2
Meckel syndrome, type 6 1 0 1 0 0 2
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 2 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 0 0 0 2
Meier-Gorlin syndrome 1 0 1 1 0 0 2
Meier-Gorlin syndrome 2 0 0 2 0 0 2
Merosin deficient congenital muscular dystrophy 2 0 0 0 0 2
Metachromatic leukodystrophy 1 0 1 0 0 2
Microcephalic primordial dwarfism, Alazami type 0 2 0 0 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 1 0 0 2
Microcephaly 6, primary, autosomal recessive 2 0 0 0 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 1 0 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 2 0 0 2
Miller syndrome 1 0 1 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 16 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 19 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 32 0 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 5 0 1 1 0 0 2
Mitochondrial complex III deficiency nuclear type 1 2 0 0 0 0 2
Mitochondrial complex III deficiency nuclear type 5 0 0 2 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 1 0 1 0 0 2
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 2 0 0 0 2
Moyamoya disease 2 0 0 2 0 0 2
Mucopolysaccharidosis, MPS-III-B 0 1 1 0 0 2
Multiple endocrine neoplasia, type 1 1 0 1 0 0 2
Multiple epiphyseal dysplasia type 1 0 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 0 2 0 0 2
Myhre syndrome 1 0 1 0 0 2
Myoglobinuria, acute recurrent, autosomal recessive 1 0 1 0 0 2
Myopia, high, with cataract and vitreoretinal degeneration 0 1 1 0 0 2
Nemaline myopathy 2 1 1 0 0 0 2
Nephrotic syndrome, type 2 2 0 0 0 0 2
Nephrotic syndrome, type 23 0 0 2 0 0 2
Nephrotic syndrome, type 4 1 1 0 0 0 2
Neuroblastoma, susceptibility to, 3 1 0 1 0 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 1 0 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 0 2 0 0 2
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 0 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 2 0 0 0 2
Neurodevelopmental disorder with poor growth and behavioral abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 2 0 0 2
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 1 1 1 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 1 0 0 2
Niemann-Pick disease, type C1 2 0 0 0 0 2
Noonan syndrome 10 2 0 0 0 0 2
Noonan syndrome 2; Noonan syndrome 10 0 2 0 0 0 2
Noonan syndrome 4 1 0 1 0 0 2
Oculocerebrodental syndrome 0 2 0 0 0 2
Okur-Chung neurodevelopmental syndrome 0 1 1 0 0 2
Oligodontia-cancer predisposition syndrome 0 0 2 0 0 2
Osteopathia striata with cranial sclerosis 0 0 2 0 0 2
Osteoporosis with pseudoglioma 0 0 2 0 0 2
Osteosclerotic metaphyseal dysplasia 1 0 1 0 0 2
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 2 0 0 2
Pancytopenia due to IKZF1 mutations 0 0 2 0 0 2
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 1 1 0 0 2
Pelizaeus-Merzbacher disease 0 0 2 0 0 2
Peters plus syndrome 1 0 1 0 0 2
Pontocerebellar hypoplasia type 1B 2 0 0 0 0 2
Pontocerebellar hypoplasia type 7 0 0 2 0 0 2
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 0 0 2 0 0 2
Primary ciliary dyskinesia 22 0 1 1 0 0 2
Primary ciliary dyskinesia 25 0 2 0 0 0 2
Primary ciliary dyskinesia 3 1 0 1 0 0 2
Primary ciliary dyskinesia 7 0 2 0 0 0 2
Primrose syndrome 0 0 2 0 0 2
Prostate cancer 0 0 2 0 0 2
Ptosis, hereditary congenital, 1 0 0 2 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 1 0 1 0 0 2
Pyruvate kinase deficiency of red cells 1 1 0 0 0 2
RET-related disorder 0 2 0 0 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 1 0 0 2
Renal carnitine transport defect 1 0 1 0 0 2
Retinitis pigmentosa 45 0 1 1 0 0 2
Ritscher-Schinzel syndrome 1 0 1 1 0 0 2
Ritscher-Schinzel syndrome 2 0 0 2 0 0 2
Roifman syndrome 0 0 2 0 0 2
Rothmund-Thomson syndrome type 2 0 1 1 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 1 0 0 2
Seizures, benign familial neonatal, 2 1 1 0 0 0 2
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 2 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 1 0 0 2
Short stature due to growth hormone secretagogue receptor deficiency 0 1 1 0 0 2
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 1 1 0 0 2
Short-rib thoracic dysplasia 16 with or without polydactyly 0 0 2 0 0 2
Shukla-Vernon syndrome 0 0 2 0 0 2
Shwachman-Diamond syndrome 1 1 1 0 0 0 2
Spinocerebellar ataxia type 35 0 0 2 0 0 2
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 0 2 0 0 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 1 0 0 2
Stickler syndrome type 2 0 0 2 0 0 2
Suleiman-El-Hattab syndrome 1 0 1 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 1 0 0 2
Syndromic X-linked intellectual disability Raymond type 0 0 2 0 0 2
Syndromic X-linked intellectual disability Shashi type 0 0 2 0 0 2
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 1 1 0 2
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 1 0 0 2
Tay-Sachs disease 2 0 0 0 0 2
Telangiectasia, hereditary hemorrhagic, type 1 0 0 2 0 0 2
Testosterone 17-beta-dehydrogenase deficiency 1 0 1 0 0 2
Thrombocytopenia 1 2 0 0 0 0 2
Thrombocytopenia 2 1 0 1 0 0 2
Tuberous sclerosis 2 1 0 1 0 0 2
Variegate porphyria 0 1 1 0 0 2
Velocardiofacial syndrome 2 0 0 0 0 2
WT1-related Wilms tumor 1 1 0 0 0 2
Warsaw breakage syndrome 0 1 1 0 0 2
Wilson-Turner syndrome 0 0 2 0 0 2
Wiskott-Aldrich syndrome 0 2 0 0 0 2
Wolfram syndrome 1 2 0 0 0 0 2
X-linked chondrodysplasia punctata 1 0 1 1 0 0 2
Xeroderma pigmentosum, group D 0 2 0 0 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
46,XY sex reversal 1 0 1 0 0 0 1
ACCES syndrome 0 1 0 0 0 1
ACTH-independent macronodular adrenal hyperplasia 2 0 0 1 0 0 1
ADULT syndrome 0 1 0 0 0 1
Abetalipoproteinaemia 1 0 0 0 0 1
Abnormal cardiovascular system morphology; Cataract; Disproportionate tall stature 0 0 1 0 0 1
Acne inversa, familial, 1 0 0 1 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acromelic frontonasal dysostosis 0 0 1 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 0 1 0 0 1
Acromicric dysplasia 0 0 1 0 0 1
Acromicric dysplasia; Geleophysic dysplasia 2 0 0 1 0 0 1
Action myoclonus-renal failure syndrome 0 0 1 0 0 1
Adult hypophosphatasia 0 1 0 0 0 1
Agammaglobulinemia 10, autosomal dominant 0 0 1 0 0 1
Agammaglobulinemia 7, autosomal recessive 0 0 1 0 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 0 1 0 0 1
Aicardi-Goutieres syndrome 6 0 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 0 1 0 0 1
Alacrima, achalasia, and intellectual disability syndrome 0 1 0 0 0 1
Alexander disease 1 0 0 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 0 1
Alzheimer disease 4 0 0 1 0 0 1
Alzheimer disease 9 0 0 1 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 0 1
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 0 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 0 0 1
Angioedema, hereditary, 6 0 0 1 0 0 1
Aortic valve disease 1 0 0 1 0 0 1
Armfield syndrome 0 0 1 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 1 0 0 1
Arthrogryposis, distal, IIa 11 0 0 1 0 0 1
Aspartylglucosaminuria 1 0 0 0 0 1
Astrocytoma; Cleft palate; Cleft lip 0 0 1 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 0 0 1
Ataxia-telangiectasia-like disorder 2 0 1 0 0 0 1
Ateleiotic dwarfism 1 0 0 0 0 1
Atrial fibrillation, familial, 10 0 0 1 0 0 1
Atrial septal defect 9 0 0 1 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 1 0 0 0 1
Aural atresia, congenital 0 0 1 0 0 1
Autism spectrum disorder 0 0 1 0 0 1
Autism, susceptibility to, 16 0 0 1 0 0 1
Autistic behavior; Macrocephaly; Neurodevelopmental delay 0 0 1 0 0 1
Autoimmune disease, multisystem, infantile-onset, 3 0 0 1 0 0 1
Autoimmune thyroid disease, susceptibility to, 3 0 0 1 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 0 1
Autoinflammatory disease, X-linked 0 0 1 0 0 1
Autoinflammatory syndrome with immunodeficiency 0 0 1 0 0 1
Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 1 0 0 0 1
Autosomal dominant Robinow syndrome 1 0 0 1 0 0 1
Autosomal dominant Robinow syndrome 3 0 1 0 0 0 1
Autosomal dominant auditory neuropathy 1 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 23 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 36 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 40 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 5 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 67 1 0 0 0 0 1
Autosomal dominant osteopetrosis 1 0 0 1 0 0 1
Autosomal dominant osteopetrosis 2 0 0 1 0 0 1
Autosomal dominant thrombocytopenia 0 0 1 0 0 1
Autosomal recessive Alport syndrome 0 0 1 0 0 1
Autosomal recessive Robinow syndrome 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 1 0 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 0 1 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 1 0 0 0 0 1
Autosomal recessive multiple pterygium syndrome 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 0 0 0 1
Autosomal recessive osteopetrosis 4 0 0 1 0 0 1
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 16 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 17 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 18 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 2 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 20 1 0 0 0 0 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 0 1 0 0 1
B4GALT1-congenital disorder of glycosylation 0 0 1 0 0 1
BENTA disease 0 0 1 0 0 1
Baller-Gerold syndrome 0 0 1 0 0 1
Bardet-Biedl syndrome 11 0 1 0 0 0 1
Bardet-Biedl syndrome 2 0 1 0 0 0 1
Bardet-Biedl syndrome 6 0 1 0 0 0 1
Basal laminar drusen 0 0 1 0 0 1
Basilicata-Akhtar syndrome 0 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 1 0 0 0 1
Bilateral parasagittal parieto-occipital polymicrogyria 0 0 1 0 0 1
Biotin-responsive basal ganglia disease 0 1 0 0 0 1
Birk-Barel syndrome 0 0 1 0 0 1
Birt-Hogg-Dube syndrome 0 0 1 0 0 1
Blau syndrome 0 0 1 0 0 1
Blepharocheilodontic syndrome 2 0 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 0 1 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 1
Bone marrow failure syndrome 3 0 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 1 0 0 1
Brachydactyly type A1C 0 1 0 0 0 1
Branchiootic syndrome 3 0 0 1 0 0 1
Branchiootorenal syndrome 2 0 0 1 0 0 1
Breast cancer, susceptibility to 0 0 1 0 0 1
Breast carcinoma; Family history of cancer 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 1 1 0 0 0 0 1
Bruck syndrome 1 0 1 0 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Brugada syndrome 8 0 0 1 0 0 1
Brunet-Wagner neurodevelopmental syndrome 0 0 1 0 0 1
Buratti-Harel syndrome 0 0 1 0 0 1
C1Q deficiency 2 0 0 1 0 0 1
CCDC115-CDG 0 0 1 0 0 1
CTCF-related neurodevelopmental disorder 0 0 1 0 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1 0 0 0 0 1
Candidiasis, familial, 6 0 0 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 1
Cardiofaciocutaneous syndrome 2 0 1 0 0 0 1
Cardiofacioneurodevelopmental syndrome 1 0 0 0 0 1
Cardiomyopathy; Craniosynostosis syndrome; Short stature; Microcephaly; Neurodevelopmental delay 0 0 1 0 0 1
Carnitine palmitoyl transferase 1A deficiency 0 0 1 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 1 0 0 0 1
Cataract 13 with adult I phenotype 0 0 1 0 0 1
Cataract 18 0 0 1 0 0 1
Cataract 23 0 0 1 0 0 1
Cataract 3 multiple types 0 0 1 0 0 1
Cataract 4 multiple types 0 0 1 0 0 1
Cataract 41 1 0 0 0 0 1
Cataract 5 multiple types 1 0 0 0 0 1
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 1 0 0 1
Central core myopathy 0 0 1 0 0 1
Cerebellar ataxia; Peripheral neuropathy 0 0 1 0 0 1
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 0 1 0 0 1
Cerebral cavernous malformation 2 1 0 0 0 0 1
Cerebral cavernous malformation 3 1 0 0 0 0 1
Cerebro-costo-mandibular syndrome 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2X 0 0 1 0 0 1
Charcot-Marie-Tooth disease recessive intermediate A 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1B 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 0 1 0 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 1 0 0 1
Cholestanol storage disease 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 5 0 1 0 0 0 1
Chondrosarcoma 0 1 0 0 0 1
Christianson syndrome 0 0 1 0 0 1
Chromosome 16p12.1 deletion syndrome, 520kb 1 0 0 0 0 1
Chromosome 1p36 deletion syndrome 1 0 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 1
Chromosome 22q11.2 microduplication syndrome 1 0 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Chromosome 9p deletion syndrome 1 0 0 0 0 1
Chronic obstructive pulmonary disease; Immunodeficiency; Chronic diarrhea; Decreased circulating immunoglobulin concentration 0 0 1 0 0 1
Chudley-McCullough syndrome 1 0 0 0 0 1
Ciliary dyskinesia, primary, 47, and lissencephaly 0 1 0 0 0 1
Classic homocystinuria 1 0 0 0 0 1
Cleidocranial dysostosis 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 3 0 1 0 0 0 1
Cohen syndrome 0 1 0 0 0 1
Colon cancer 0 0 1 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 1
Colorectal cancer, susceptibility to, 3 0 0 1 0 0 1
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 1 0 0 0 1
Combined immunodeficiency due to STIM1 deficiency 0 0 1 0 0 1
Combined immunodeficiency with skin granulomas 1 0 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 15 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 21 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 28 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 35 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 37 0 1 0 0 0 1
Complement component 6 deficiency 1 0 0 0 0 1
Complement component 7 deficiency 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 0 0 1
Cone-rod dystrophy 13 1 0 0 0 0 1
Congenital bile acid synthesis defect 2 0 0 1 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency 0 0 1 0 0 1
Congenital defect of folate absorption 0 0 1 0 0 1
Congenital diarrhea 7 with exudative enteropathy 0 0 1 0 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 0 1
Congenital disorder of glycosylation with defective fucosylation 2 0 0 1 0 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 1 0 0 0 1
Congenital elevation of scapula; Skeletal dysplasia; Short stature; Scoliosis; Hemivertebrae; Tapered finger; Brachycephaly; Failure to thrive in infancy; Short neck; Progressive microcephaly; Intellectual disability; Severe failure to thrive; Mitral regurgitation; Hypophosphatemia; Thoracic scoliosis; Vertebral fusion; Abnormal form of the vertebral bodies; Thoracolumbar kyphoscoliosis; Disproportionate short stature; Decreased body weight; Lumbar kyphoscoliosis; Thoracic kyphoscoliosis; Neuropathic spinal arthropathy; Progressive congenital scoliosis; Childhood-onset short-trunk short stature; Delayed fine motor development; Mild global developmental delay; Delayed ability to stand; Delayed ability to walk; Mild malformation of cortical development 1 0 0 0 0 1
Congenital heart defects and ectodermal dysplasia 0 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 0 1
Congenital heart defects, multiple types, 9 0 0 1 0 0 1
Congenital hypotrichosis with juvenile macular dystrophy 1 0 0 0 0 1
Congenital microvillous atrophy 1 0 0 0 0 1
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 1 0 0 0 1
Congenital omphalocele; Congenital contracture 0 0 1 0 0 1
Congenital omphalocele; Orofacial cleft; Ambiguous genitalia; Hypotonia 0 0 1 0 0 1
Congenital reticular ichthyosiform erythroderma 0 1 0 0 0 1
Congenital secretory diarrhea, chloride type 0 0 1 0 0 1
Congenital short bowel syndrome, autosomal recessive 0 1 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 3 0 0 1 0 0 1
Corneal dystrophy, posterior polymorphous, 4 0 0 1 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 0 1
Cornelia de Lange-like syndrome 0 1 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 1 0 0 0 1
Craniofacial dysplasia - osteopenia syndrome 0 0 1 0 0 1
Craniofacial microsomia 2 0 0 1 0 0 1
Craniosynostosis 7 0 0 1 0 0 1
Craniosynostosis syndrome; Seizure; Intellectual disability 0 0 1 0 0 1
Craniotubular dysplasia, Ikegawa type 0 0 1 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 1 0 0 1
Currarino triad 0 1 0 0 0 1
Cutaneous mastocytosis 0 0 1 0 0 1
Cutaneous porphyria 1 0 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 1 0 0 0 1
Cutis laxa, autosomal dominant 3 0 1 0 0 0 1
Cystic fibrosis; Hereditary pancreatitis 1 0 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 0 1 0 0 1
DE SANCTIS-CACCHIONE SYNDROME 0 0 1 0 0 1
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 0 1 0 0 1
Deficiency of adenosine deaminase 2 0 0 1 0 0 1
Deficiency of alpha-mannosidase 0 1 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 0 0 1
Deficiency of cytochrome-b5 reductase 1 0 0 0 0 1
Deficiency of ferroxidase 0 0 1 0 0 1
Deficiency of galactokinase 0 1 0 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 1
Deficiency of isobutyryl-CoA dehydrogenase 0 0 1 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 0 0 1
Dent disease type 1 1 0 0 0 0 1
Dermatopathia pigmentosa reticularis 1 0 0 0 0 1
Developmental and epileptic encephalopathy 101 0 0 1 0 0 1
Developmental and epileptic encephalopathy 103 0 0 1 0 0 1
Developmental and epileptic encephalopathy 108 0 0 1 0 0 1
Developmental and epileptic encephalopathy 109 0 0 1 0 0 1
Developmental and epileptic encephalopathy 6B 0 0 1 0 0 1
Developmental and epileptic encephalopathy 92 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 12 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 16 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 21 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 23 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 37 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 41 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 43 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 48 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 49 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 55 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 56 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 61 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 70 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 72 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 73 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 74 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 86 0 0 1 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 0 0 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 0 1
Diamond-Blackfan anemia 16 0 0 1 0 0 1
Diamond-Blackfan anemia 18 0 0 1 0 0 1
Diamond-Blackfan anemia 4 0 0 1 0 0 1
Diamond-Blackfan anemia 7 1 0 0 0 0 1
Diarrhea 10, protein-losing enteropathy type 0 0 1 0 0 1
Diastrophic dysplasia 1 0 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1D 0 1 0 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Dilated cardiomyopathy 1GG 0 0 1 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 1
Distal arthrogryposis 0 0 1 0 0 1
Distal arthrogryposis type 2B1 0 0 1 0 0 1
Dowling-Degos disease 1 0 1 0 0 0 1
Duane-radial ray syndrome 0 0 1 0 0 1
Duchenne muscular dystrophy 1 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 2 0 0 1 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 1 0 0 0 0 1
Dystonia 12 0 0 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 0 1
Dystonia 30 0 0 1 0 0 1
Dystonia 9 1 0 0 0 0 1
Dystonic disorder; Seizure; Dyskinesia; Neurodevelopmental delay 1 0 0 0 0 1
EAST syndrome 0 0 1 0 0 1
Early-onset chronic pancreatitis 0 0 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 0 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 1 0 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 0 0 1
Elliptocytosis 2 0 1 0 0 0 1
Elliptocytosis 3; Hereditary spherocytosis type 2 0 0 1 0 0 1
Elsahy-Waters syndrome 0 0 1 0 0 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 0 0 1 0 0 1
Encephalopathy, acute, infection-induced, susceptibility to, 4 1 0 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 1 0 0 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 0 1 0 0 1
Epidermodysplasia verruciformis, susceptibility to, 4 0 0 1 0 0 1
Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex, Koebner type 1 0 0 0 0 1
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 1 0 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 0 1 0 0 1
Epidermolysis bullosa, junctional 4, intermediate 0 1 0 0 0 1
Epilepsy with myoclonic atonic seizures 0 1 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 3 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 1
Epilepsy, progressive myoclonic, 11 1 0 0 0 0 1
Epileptic encephalopathy with cognitive deficit 0 0 1 0 0 1
Epiphyseal dysplasia, multiple, 2 0 0 1 0 0 1
Episodic ataxia type 2 0 0 1 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 0 1
Ethylmalonic encephalopathy 0 0 1 0 0 1
Exostoses, multiple, type 1 1 0 0 0 0 1
Exostoses, multiple, type 2 0 1 0 0 0 1
Exudative vitreoretinopathy 7 0 0 1 0 0 1
FBN1-related disorder 0 1 0 0 0 1
Fabry disease 0 0 1 0 0 1
Failure to thrive; Scoliosis; Exocrine pancreatic insufficiency; Congenital ichthyosiform erythroderma 0 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 0 1
Familial cold autoinflammatory syndrome 1 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 0 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 1 0 0 1
Familial gestational hyperthyroidism 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 4 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 0 1 0 0 1
Familial porphyria cutanea tarda 0 0 1 0 0 1
Familial prostate cancer 0 0 1 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 0 1
Familial temporal lobe epilepsy 8 0 0 1 0 0 1
Familial type 3 hyperlipoproteinemia 0 0 1 0 0 1
Fanconi anemia complementation group D1 0 0 1 0 0 1
Fanconi anemia complementation group N 0 1 0 0 0 1
Fanconi anemia complementation group P 0 0 1 0 0 1
Fanconi anemia complementation group T 0 0 1 0 0 1
Fanconi anemia, complementation group S 0 0 1 0 0 1
Fanconi renotubular syndrome 3 0 0 1 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 1 0 0 0 0 1
Febrile seizures, familial, 2 0 0 1 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 0 1
Fontaine progeroid syndrome 0 0 1 0 0 1
Frank-Ter Haar syndrome 0 1 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 1
Freeman-Sheldon syndrome 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 1 0 0 1
GNE myopathy 0 1 0 0 0 1
GRACILE syndrome 0 0 1 0 0 1
Gamma-aminobutyric acid transaminase deficiency 0 1 0 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 1 0 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 1
Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma 1 0 0 0 0 1
Geleophysic dysplasia 3 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 1 0 0 0 1
Glaucoma 0 0 1 0 0 1
Glioma susceptibility 2 0 0 1 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 1
Glomuvenous malformation 1 0 0 0 0 1
Glucose-6-phosphate transport defect 1 0 0 0 0 1
Glycogen storage disease IXc 0 1 0 0 0 1
Glycogen storage disease IXd 0 0 1 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Glycogen storage disease, type VII 1 0 0 0 0 1
Gonadal dysgenesis; Cholestasis; Gonadal tissue inappropriate for external genitalia or chromosomal sex 0 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, 5 0 0 1 0 0 1
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 0 0 1 0 0 1
H syndrome 0 0 1 0 0 1
Hearing impairment 0 0 1 0 0 1
Hearing loss, autosomal dominant 81 0 0 1 0 0 1
Hearing loss, autosomal dominant 82 0 0 1 0 0 1
Heart, malformation of; Hearing impairment; Flexion contracture; Thrombocytopenia 0 0 1 0 0 1
Hemochromatosis type 4 0 0 1 0 0 1
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 1 0 0 0 1
Hereditary amyloidosis 1 0 0 0 0 1
Hereditary angioedema type 1 1 0 0 0 0 1
Hereditary antithrombin deficiency 0 1 0 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 0 0 1
Hereditary lymphedema type I 0 0 1 0 0 1
Hereditary nonpolyposis colorectal carcinoma 1 0 0 0 0 1
Hereditary persistence of fetal hemoglobin 1 0 0 0 0 1
Hereditary spastic paraplegia 15 0 0 1 0 0 1
Hereditary spastic paraplegia 26 1 0 0 0 0 1
Hereditary spastic paraplegia 35 0 1 0 0 0 1
Hereditary spastic paraplegia 45 0 0 1 0 0 1
Hereditary spastic paraplegia 46 0 0 1 0 0 1
Hereditary spastic paraplegia 49 0 0 1 0 0 1
Hereditary spastic paraplegia 56 1 0 0 0 0 1
Hereditary spastic paraplegia 61 0 0 1 0 0 1
Hereditary spastic paraplegia 64 0 0 1 0 0 1
Hereditary spherocytosis type 1 0 0 1 0 0 1
Hermansky-Pudlak syndrome 11 0 1 0 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 0 1
Hidrotic ectodermal dysplasia syndrome 1 0 0 0 0 1
Holocarboxylase synthetase deficiency 0 0 1 0 0 1
Holoprosencephaly 13, X-linked 0 0 1 0 0 1
Holoprosencephaly 5 0 0 1 0 0 1
Holoprosencephaly 7 0 0 1 0 0 1
Holt-Oram syndrome 1 0 0 0 0 1
Houge-Janssens syndrome 2 0 0 1 0 0 1
Houge-Janssens syndrome 3 0 0 1 0 0 1
Hydrocephalus, congenital communicating, 1 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 5, autosomal recessive 0 0 1 0 0 1
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0 0 1 0 0 1
Hyperekplexia 3 0 1 0 0 0 1
Hyperlipoproteinemia, type I 1 0 0 0 0 1
Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 2 0 0 1 0 0 1
Hyperpigmentation of the skin; Neurodevelopmental delay; Skin vesicle 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 4 0 0 1 0 0 1
Hyperuricemic nephropathy, familial juvenile type 4 0 0 1 0 0 1
Hypogonadotropic hypogonadism 12 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 15 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 25 with anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 26 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 0 1
Hypomyelinating leukodystrophy 10 0 1 0 0 0 1
Hypomyelinating leukodystrophy 2 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 1 0 0 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 0 0 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 0 1 0 0 0 1
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 0 1 0 0 1
Ichthyosis, congenital, autosomal recessive 13 1 0 0 0 0 1
Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 1 0 0 0 0 1
Idiopathic basal ganglia calcification 1 0 0 1 0 0 1
Immunodeficiency 101 (varicella zoster virus-specific) 0 0 1 0 0 1
Immunodeficiency 106, susceptibility to viral infections 1 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 19 1 0 0 0 0 1
Immunodeficiency 27A 0 0 1 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 1 0 0 0 0 1
Immunodeficiency 45 0 0 1 0 0 1
Immunodeficiency 57 0 1 0 0 0 1
Immunodeficiency 70 0 0 1 0 0 1
Immunodeficiency 72 with autoinflammation 1 0 0 0 0 1
Immunodeficiency 86 1 0 0 0 0 1
Immunodeficiency 94 with autoinflammation and dysmorphic facies 0 0 1 0 0 1
Immunodeficiency 98 with autoinflammation, X-linked 0 0 1 0 0 1
Immunodeficiency, common variable, 5 0 0 1 0 0 1
Immunoglobulin A deficiency 2 0 0 1 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 0 1
Infantile liver failure syndrome 3 0 0 1 0 0 1
Infantile-onset ascending hereditary spastic paralysis 1 0 0 0 0 1
Inflammatory bowel disease 1 0 0 1 0 0 1
Inflammatory bowel disease 25 0 0 1 0 0 1
Inflammatory bowel disease 28 0 1 0 0 0 1
Inflammatory bowel disease 29 0 0 1 0 0 1
Intellectual developmental disorder 59 0 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 1 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 0 1 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 0 1 0 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 0 0 1
Intellectual developmental disorder with short stature and variable skeletal anomalies 0 0 1 0 0 1
Intellectual developmental disorder, X-linked 112 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 70 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 74; Cortical dysplasia, complex, with other brain malformations 10 0 0 1 0 0 1
Intellectual disability 0 1 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 1
Intellectual disability, X-linked 21 0 0 1 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 0 1
Intellectual disability, X-linked 41 0 0 1 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 10 0 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 0 1 0 0 1
Intellectual disability, autosomal dominant 29 0 0 1 0 0 1
Intellectual disability, autosomal dominant 30 0 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 38 0 0 1 0 0 1
Intellectual disability, autosomal dominant 42 1 0 0 0 0 1
Intellectual disability, autosomal dominant 48 0 1 0 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 1
Intellectual disability, autosomal dominant 54 0 0 1 0 0 1
Intellectual disability, autosomal recessive 12 0 1 0 0 0 1
Intellectual disability, autosomal recessive 13 0 0 1 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 0 1
Intellectual disability, autosomal recessive 53 0 1 0 0 0 1
Intellectual disability, autosomal recessive 63 0 0 1 0 0 1
Intellectual disability; Epileptic encephalopathy 0 0 1 0 0 1
Interstitial lung disease 2 0 0 1 0 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 0 1
Intestinal hypomagnesemia 1 0 0 1 0 0 1
Iron overload, susceptibility to 0 0 1 0 0 1
Isolated microphthalmia 3 0 0 1 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Jawad syndrome; Seckel syndrome 2 0 1 0 0 0 1
Joubert syndrome 16 0 0 1 0 0 1
Keppen-Lubinsky syndrome 0 0 1 0 0 1
Kniest dysplasia; Spondyloepimetaphyseal dysplasia, Strudwick type 0 1 0 0 0 1
Knobloch syndrome 1 0 0 0 0 1
Kostmann syndrome 1 0 0 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
LMNA-related disorder 1 0 0 0 0 1
LZTR1-related schwannomatosis 0 1 0 0 0 1
Larsen syndrome 0 0 1 0 0 1
Leber congenital amaurosis 13 1 0 0 0 0 1
Leber congenital amaurosis 9 0 1 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 1
Left ventricular noncompaction 7 0 1 0 0 0 1
Legius syndrome 1 0 0 0 0 1
Leigh syndrome; Charcot-Marie-Tooth disease type 4K 1 0 0 0 0 1
Lenz-Majewski hyperostosis syndrome 0 0 1 0 0 1
Lesch-Nyhan syndrome 0 1 0 0 0 1
Lethal arthrogryposis-anterior horn cell disease syndrome 0 0 1 0 0 1
Leukemia, acute lymphoblastic, susceptibility to, 3 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 16 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 24 0 0 1 0 0 1
Leukodystrophy; Global developmental delay; CNS demyelination; Hypotonia; Megalencephaly 0 0 1 0 0 1
Leukodystrophy; Seizure; Hearing impairment 0 1 0 0 0 1
Liang-Wang syndrome 0 0 1 0 0 1
Lichtenstein-Knorr syndrome 0 0 1 0 0 1
Lissencephaly 10 0 0 1 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 1 1 0 0 0 0 1
Loeys-Dietz syndrome 2 0 0 1 0 0 1
Long QT syndrome 3 0 0 1 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Loricrin keratoderma 0 0 1 0 0 1
Lynch syndrome 8 0 0 1 0 0 1
MEGF8-related Carpenter syndrome 0 1 0 0 0 1
MELAS syndrome 0 1 0 0 0 1
MHC class II deficiency 0 1 0 0 0 1
MYBPC3-related disorder 0 1 0 0 0 1
MYL2-related disorder 0 1 0 0 0 1
Macrothrombocytopenia, isolated, 2, autosomal dominant 0 0 1 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 0 1 0 0 1
Malan overgrowth syndrome 0 0 1 0 0 1
Malignant tumor of breast 0 0 1 0 0 1
Marden-Walker syndrome 0 1 0 0 0 1
Marshall-Smith syndrome 1 0 0 0 0 1
Maturity-onset diabetes of the young type 2 0 0 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 3 0 0 1 0 0 1
Megaloblastic anemia, folate-responsive 0 0 1 0 0 1
Meier-Gorlin syndrome 4 0 1 0 0 0 1
Meier-Gorlin syndrome 6 0 0 1 0 0 1
Melanoma and neural system tumor syndrome 0 0 1 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 8 0 1 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 0 1 0 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 0 1
Menke-Hennekam syndrome 2 0 0 1 0 0 1
Menstrual cycle-dependent periodic fever 0 0 1 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 0 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 1 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 0 0 1 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 1
Microcephaly 21, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 3, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly and chorioretinopathy 3 0 1 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 0 1 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 2 0 0 1 0 0 1
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 0 0 1 0 0 1
Microphthalmia with brain and digit anomalies 0 0 1 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 1 0 0 1
Migraine, with or without aura, susceptibility to, 13 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 1 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 4b 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 18 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 8 0 1 0 0 0 1
Mitochondrial complex III deficiency nuclear type 2 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 4 1 0 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 0 1 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 0 0 1
Mitochondrial trifunctional protein deficiency 2 0 1 0 0 0 1
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 1 0 0 0 0 1
Monocytopenia with susceptibility to infections 0 0 1 0 0 1
Mosaic variegated aneuploidy syndrome 1 0 1 0 0 0 1
Mucocutaneous ulceration, chronic 0 1 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 1
Mucolipidosis type IV 0 0 1 0 0 1
Mucopolysaccharidosis type 7 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 0 1
Multicentric osteolysis, nodulosis, and arthropathy 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 0 1 0 0 1
Multiple endocrine neoplasia type 2A 1 0 0 0 0 1
Multiple endocrine neoplasia type 4 0 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 6 0 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 7 0 0 1 0 0 1
Multiple sulfatase deficiency 0 0 1 0 0 1
Multiple synostoses syndrome 2 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 1 0 0 1
Myasthenic syndrome, congenital, 25, presynaptic 0 1 0 0 0 1
Myelodysplasia; Pleural effusion 0 0 1 0 0 1
Myoclonic dystonia 11 0 1 0 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 1 0 0 1
Myopia; Intellectual disability; Lens luxation 0 0 1 0 0 1
NAD(P)HX dehydratase deficiency 0 1 0 0 0 1
NDE1-related microhydranencephaly 1 0 0 0 0 1
Nemaline myopathy 10 1 0 0 0 0 1
Neoplasm of uterus; Family history of cancer 1 0 0 0 0 1
Nephronophthisis 16 0 0 1 0 0 1
Nephronophthisis 19 1 0 0 0 0 1
Nephronophthisis 20 0 1 0 0 0 1
Nephrotic syndrome 15 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 0 1 0 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 0 0 1
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 0 0 1 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 0 0 1 0 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with infantile epileptic spasms 0 0 1 0 0 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with poor language and loss of hand skills 0 0 1 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with seizures and gingival overgrowth 0 1 0 0 0 1
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 8 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 2C 0 0 1 0 0 1
Neutral 1 amino acid transport defect 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 0 1
Niemann-Pick disease, type A 0 1 0 0 0 1
Niemann-Pick disease, type C2 1 0 0 0 0 1
Noonan syndrome 13 0 0 1 0 0 1
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 0 1 0 0 0 1
Noonan syndrome 5 0 1 0 0 0 1
Noonan syndrome 6 1 0 0 0 0 1
Noonan syndrome 7 1 0 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 1
Obesity, hyperphagia, and developmental delay 0 0 1 0 0 1
Ocular albinism 1 0 0 0 0 1
Ogden syndrome 0 1 0 0 0 1
Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 1
Osteofibrous dysplasia 0 0 1 0 0 1
Osteogenesis imperfecta type 10 0 1 0 0 0 1
Osteogenesis imperfecta type 15 0 1 0 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 0 1 0 0 0 1
Osteogenesis imperfecta, type 18 0 0 1 0 0 1
Osteogenesis imperfecta, type 21 0 0 1 0 0 1
Osteopenia; Splenomegaly; Asthma 1 0 0 0 0 1
Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 1 0 0 0 1
Otitis media, susceptibility to 0 0 1 0 0 1
Ovarian dysgenesis 10 0 1 0 0 0 1
Ovarian neoplasm 0 0 1 0 0 1
Ovarian neoplasm; Melanoma 1 0 0 0 0 1
PEHO-like syndrome 0 0 1 0 0 1
PGM1-congenital disorder of glycosylation 0 0 1 0 0 1
PHARC syndrome 1 0 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 1
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 0 0 1 0 0 1
Pancreatic cancer, susceptibility to, 2 0 0 1 0 0 1
Pancreatic cancer, susceptibility to, 3 0 0 1 0 0 1
Papillary renal cell carcinoma type 1 0 0 1 0 0 1
Parkinsonism with polyneuropathy 0 0 1 0 0 1
Patterned macular dystrophy 2 0 0 1 0 0 1
Peeling skin syndrome 4 0 1 0 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 0 1
Periventricular nodular heterotopia 9 0 0 1 0 0 1
Peroxisome biogenesis disorder 14B 0 1 0 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 0 0 1 0 0 1
Perrault syndrome 6 0 0 1 0 0 1
Persistent Mullerian duct syndrome 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 2 0 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 0 1
Pigmentary pallidal degeneration 0 1 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 1
Pigmented paravenous retinochoroidal atrophy 1 0 0 0 0 1
Pili torti-developmental delay-neurological abnormalities syndrome 0 0 1 0 0 1
Pitt-Hopkins syndrome 0 0 1 0 0 1
Platelet-activating factor acetylhydrolase deficiency 0 0 1 0 0 1
Platelet-type bleeding disorder 20 0 0 1 0 0 1
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 1 0 0 1
Pontocerebellar hypoplasia type 3 0 0 1 0 0 1
Pontocerebellar hypoplasia, type 1D 0 0 1 0 0 1
Porokeratosis 7, multiple types 0 0 1 0 0 1
Precocious puberty, central, 2 1 0 0 0 0 1
Premature ovarian failure 15 0 0 1 0 0 1
Primary ciliary dyskinesia 14 1 0 0 0 0 1
Primary ciliary dyskinesia 24 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
Primary hyperoxaluria type 3 1 0 0 0 0 1
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 0 1 0 0 1
Primary intraosseous venous malformation 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 0 1
Progressive myoclonic epilepsy type 7 0 0 1 0 0 1
Progressive myositis ossificans 1 0 0 0 0 1
Progressive peripheral neuropathy; Progressive gait ataxia 0 1 0 0 0 1
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4b 1 0 0 0 0 1
Proteasome-associated autoinflammatory syndrome 3 0 1 0 0 0 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 0 0 0 0 1
Pseudohypoparathyroidism type 1C 0 1 0 0 0 1
Pseudohypoparathyroidism type I A 0 1 0 0 0 1
Pulmonary hypertension, primary, 5 0 0 1 0 0 1
Pulmonary valve stenosis; Short stature; Failure to thrive; Scoliosis; Nystagmus; Microcephaly; Intellectual disability; Gray matter heterotopia; Parietal foramina; Proportionate short stature; Severe intellectual disability 1 0 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 1 0 0 0 1
Pyridoxal phosphate-responsive seizures 0 1 0 0 0 1
Pyruvate carboxylase deficiency 0 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 1 0 0 0 0 1
RIDDLE syndrome 0 1 0 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 0 1 0 0 1
Rafiq syndrome 0 1 0 0 0 1
Renal coloboma syndrome 1 0 0 0 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 0 1
Renal-hepatic-pancreatic dysplasia 2 0 0 1 0 0 1
Respiratory papillomatosis, juvenile recurrent, congenital 0 0 1 0 0 1
Retinitis pigmentosa 49 0 1 0 0 0 1
Retinitis pigmentosa 62 0 1 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 0 0 0 1
SCN5A-related disorder 0 1 0 0 0 1
STAT3-related early-onset multisystem autoimmune disease 0 0 1 0 0 1
Sclerosteosis 1 1 0 0 0 0 1
Scoliosis; Delayed gross motor development; Neonatal respiratory distress 0 0 1 0 0 1
Seizure; Neurodevelopmental delay 0 0 1 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Seizure; Hypoglycemia; Hepatomegaly 0 0 1 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Short stature; Microcephaly 0 0 1 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 0 0 0 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 0 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 1 0 0 0 0 1
Severe progressive deforming recessive osteogenesis imperfecta (type III) 1 0 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 1 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 1 0 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 0 1 0 0 1
Sialuria 0 1 0 0 0 1
Sick sinus syndrome 3, susceptibility to 0 0 1 0 0 1
Sideroblastic anemia 2 0 1 0 0 0 1
Silver-Russell syndrome 5 0 0 1 0 0 1
Simpson-Golabi-Behmel syndrome type 2 0 1 0 0 0 1
Sjögren-Larsson syndrome 1 0 0 0 0 1
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 1 0 0 1
Skin creases, congenital symmetric circumferential, 2 0 0 1 0 0 1
Sneddon syndrome 1 0 0 0 0 1
Spastic paraplegia 81, autosomal recessive 0 0 1 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 0 1 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 0 0 1
Spinocerebellar ataxia type 14 0 0 1 0 0 1
Spinocerebellar ataxia type 19/22 1 0 0 0 0 1
Spinocerebellar ataxia type 26 0 0 1 0 0 1
Spinocerebellar ataxia type 29 1 0 0 0 0 1
Spinocerebellar ataxia type 41 0 0 1 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 29 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 1 0 0 1
Splenomegaly; Decreased circulating immunoglobulin concentration 1 0 0 0 0 1
Sponastrime dysplasia 0 1 0 0 0 1
Spondylocostal dysostosis 4, autosomal recessive 0 0 1 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Genevieve type 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 0 0 1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 0 1 0 0 0 1
Steel syndrome 0 1 0 0 0 1
Subcutaneous panniculitis-like T-cell lymphoma 0 0 1 0 0 1
Sucrase-isomaltase deficiency 0 0 1 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 1 0 0 0 0 1
Syndromic X-linked intellectual disability 14 0 0 1 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 0 1
Syndromic X-linked intellectual disability Hedera type 0 0 1 0 0 1
Systemic lupus erythematosus, susceptibility to, 10 0 0 1 0 0 1
Systemic lupus erythematosus, susceptibility to, 11 0 0 1 0 0 1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 1 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 1 0 0 0 0 1
Tall stature-intellectual disability-renal anomalies syndrome 0 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 0 0 0 1
Tessadori-Van Haaften neurodevelopmental syndrome 3 0 0 1 0 0 1
Tessadori-Van Haaften neurodevelopmental syndrome 4 0 0 1 0 0 1
Thrombocytopenia 4 0 0 1 0 0 1
Thrombophilia due to thrombin defect 1 0 0 0 0 1
Thyroid cancer, nonmedullary, 5 0 0 1 0 0 1
Thyroid dyshormonogenesis 6 0 0 1 0 0 1
Timothy syndrome 0 0 1 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 1
Townes-Brocks syndrome 2 0 0 1 0 0 1
Treacher Collins syndrome 4 0 0 1 0 0 1
Tumor predisposition syndrome 3 0 0 1 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 1 1 0 0 0 0 1
Turnpenny-fry syndrome 0 0 1 0 0 1
Type II complement component 8 deficiency 0 1 0 0 0 1
UDPglucose-4-epimerase deficiency 0 1 0 0 0 1
Urocanate hydratase deficiency 0 0 1 0 0 1
Usher syndrome type 3A 0 1 0 0 0 1
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 0 1 0 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 1 0 1 0 0 0 1
Ververi-Brady syndrome 1 0 1 0 0 0 1
Visceral myopathy 1 0 1 0 0 0 1
Visual hallucination; Auditory hallucination; Dementia 0 1 0 0 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 1 0 0 0 1
WHIM syndrome 1 0 0 1 0 0 1
Warburg micro syndrome 2 0 1 0 0 0 1
Warburg micro syndrome 2; Martsolf syndrome 1 0 0 1 0 0 1
Weaver syndrome 0 0 1 0 0 1
Wieacker-Wolff syndrome 1 0 0 0 0 1
Wieacker-Wolff syndrome, female-restricted 0 0 1 0 0 1
Williams syndrome 1 0 0 0 0 1
Wiskott-Aldrich syndrome 2 0 0 1 0 0 1
Wolcott-Rallison dysplasia 1 0 0 0 0 1
Wolfram syndrome 1; Wolfram-like syndrome 1 0 0 0 0 1
Wolfram-like syndrome 0 1 0 0 0 1
X-linked Opitz G/BBB syndrome 0 0 1 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 0 0 1
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 1 0 0 0 0 1
X-linked dystonia-parkinsonism 0 0 1 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 0 0 1 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 0 1
XK-related neurodegenerative disease 0 0 1 0 0 1
Xeroderma pigmentosum group A 0 1 0 0 0 1
Xeroderma pigmentosum group B 0 1 0 0 0 1
Xeroderma pigmentosum variant type 0 1 0 0 0 1
Xeroderma pigmentosum, group E 0 1 0 0 0 1
Yao syndrome 0 0 1 0 0 1
Zaki syndrome 0 0 1 0 0 1
Zimmermann-Laband syndrome 3 0 0 1 0 0 1
von Willebrand disease type 1 0 0 1 0 0 1

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