ClinVar Miner

Variants from GenomeConnect, ClinGen

Location: United States  Primary collection method: phenotyping only
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 not provided total
0 0 0 0 0 2810 2810

Gene and significance breakdown #

Total genes and gene combinations: 1551
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Gene or gene combination not provided total
BRCA2 34 34
TTN 30 30
SPINK5 18 18
APC 15 15
DOCK8 14 14
MT-ATP6 14 14
​intergenic 13 13
CHEK2 13 13
COL5A1 13 13
MSH2 13 13
PMS2 13 13
RYR1 13 13
MSH6 12 12
ABCA4 11 11
COL12A1 11 11
COL3A1 11 11
TNXB 11 11
CFTR 10 10
DOCK2 10 10
FBN1 10 10
FBN2 10 10
ATM 9 9
ATM, C11orf65 9 9
ATP7B 9 9
LAMA2 9 9
NF1 9 9
POLE 9 9
RTEL1, RTEL1-TNFRSF6B 9 9
ZNF469 9 9
BRCA1 8 8
CACNA1A 8 8
COL1A2 8 8
DMD 8 8
LTBP4 8 8
MT-CYB 8 8
MYBPC3 8 8
POLG 8 8
SCN2A 8 8
SCN5A 8 8
CDH1 7 7
COL11A1 7 7
LYST 7 7
PLEC 7 7
USH2A 7 7
CCDST, FLG 6 6
COL11A2 6 6
COL1A1 6 6
COL5A2 6 6
CPS1 6 6
DYSF 6 6
FLNA 6 6
FPR1 6 6
PALB2 6 6
POLD1 6 6
PYGM 6 6
RYR3 6 6
SLC26A4 6 6
VPS13B 6 6
ANK2 5 5
ANO5 5 5
AXIN2 5 5
CACNA1G 5 5
CHD2 5 5
COL2A1 5 5
COL6A2 5 5
DDX3X 5 5
GAA 5 5
HUWE1 5 5
IL17RA 5 5
IRF7 5 5
KCNH2 5 5
LOX, SRFBP1 5 5
MEF2C 5 5
MEFV 5 5
MLH1 5 5
MT-CO1 5 5
MYLK 5 5
NBN 5 5
NEB 5 5
NLRP12 5 5
NOTCH1 5 5
NRXN1 5 5
PKHD1 5 5
SLC7A7 5 5
ACO2 4 4
ADA2 4 4
ADAMTS2 4 4
AIRE 4 4
AP3B1 4 4
ASXL3 4 4
ATRX 4 4
BRIP1 4 4
CASK 4 4
CDH23 4 4
CIITA 4 4
CNTNAP2 4 4
COL5A1, LOC101448202 4 4
COL6A1 4 4
DES 4 4
DNMT3A 4 4
DYNC1H1 4 4
FLNC 4 4
FOXG1 4 4
FOXN1 4 4
GFI1 4 4
IL7R 4 4
KDM5C 4 4
KMT2D 4 4
LMNA 4 4
MBD5 4 4
MECP2 4 4
MT-ND5 4 4
MT-RNR1 4 4
MTOR 4 4
MYH7 4 4
MYO15A 4 4
NAGS 4 4
NOD2 4 4
NTHL1 4 4
PFKM 4 4
PIK3R1 4 4
PLCG2 4 4
POMGNT1, TSPAN1 4 4
PRKG1 4 4
RAD51C 4 4
RYR2 4 4
SCN1A 4 4
SCN8A 4 4
SH3BP2 4 4
SLC29A3 4 4
STXBP1 4 4
SZT2 4 4
TBCK 4 4
TCN2 4 4
TERT 4 4
TNFRSF13B 4 4
TNFRSF1A 4 4
TRRAP 4 4
UNC13D 4 4
WFS1 4 4
AARS2 3 3
ABCC6 3 3
ABCC8 3 3
ACADS 3 3
ACTN2 3 3
ADAR 3 3
AGRN 3 3
ALDH5A1 3 3
ALMS1 3 3
ANKRD11 3 3
AOPEP, FANCC 3 3
B4GALT7 3 3
BARD1 3 3
BTD 3 3
CACHD1 3 3
CACNA1H 3 3
CAPN3 3 3
CEP290 3 3
COG4 3 3
COL6A3 3 3
COL7A1 3 3
COL9A1 3 3
COQ8A 3 3
CYBA 3 3
CYFIP1, NIPA1, NIPA2, TUBGCP5 3 3
CYP17A1 3 3
DARS2 3 3
DCTN1 3 3
DEPDC5 3 3
DHCR7 3 3
DNAJB6 3 3
DST 3 3
EARS2 3 3
ELN 3 3
ENO3 3 3
FANCA 3 3
FLCN 3 3
GFM2 3 3
GJB2 3 3
GLA, RPL36A-HNRNPH2 3 3
GRIN1 3 3
GRIN2B 3 3
GTPBP3 3 3
HECW2 3 3
HERC2 3 3
HNRNPU 3 3
IGF1R 3 3
IL17RC 3 3
IL1RAPL1 3 3
ITGB2 3 3
JAK3 3 3
KANSL1 3 3
KCNA2 3 3
KIF1A 3 3
LDLR 3 3
LMX1B 3 3
LRBA 3 3
LRP2 3 3
LRSAM1 3 3
LTBP2 3 3
LTBP3 3 3
MAP2K2 3 3
MARS1 3 3
MED13L 3 3
MFN2 3 3
MPV17 3 3
MT-ND4 3 3
MT-TT 3 3
MVK 3 3
MYH11 3 3
MYH9 3 3
MYO7A 3 3
NEB, RIF1 3 3
NLRP3 3 3
OBI1, POU4F1 3 3
OPA1 3 3
OTOGL 3 3
PIGT 3 3
POMT2 3 3
PRKCD 3 3
PTCHD1 3 3
PUF60 3 3
QRICH1 3 3
RAD51D, RAD51L3-RFFL 3 3
RET 3 3
RP1L1 3 3
SACS 3 3
SCN3A 3 3
SHANK2 3 3
SLC2A1 3 3
SLC6A1 3 3
SMARCA4 3 3
SPAST 3 3
SPG7 3 3
SPTAN1 3 3
SPTBN2 3 3
STK11 3 3
STRC 3 3
STXBP2 3 3
SYNE1 3 3
TAP2 3 3
TBCEL-TECTA, TECTA 3 3
TGFB2 3 3
TGFBR2 3 3
TP53 3 3
TPP1 3 3
TRIO 3 3
TRNT1 3 3
TRPV4 3 3
WDR81 3 3
ZAP70 3 3
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ARHGEF35, ARHGEF5, ASB10, ASIC3, ATG9B, ATP6V0E2, C7orf33, CASP2, CDK5, CHPF2, CLCN1, CNPY1, CNTNAP2, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CUL1, EN2, EPHA1, EZH2, FAM131B, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GSTK1, HTR5A, INSIG1, KCNH2, KMT2C, KRABD3, LOC100134040, LRRC61, MIR671, NOBOX, NOS3, NUB1, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, PAXIP1, PDIA4, PRKAG2, RARRES2, RBM33, REPIN1, RHEB, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TAS2R41, TAS2R60, TCAF1, TCAF2, TMEM139, TMEM176A, TMEM176B, TMUB1, TPK1, WDR86, XRCC2, ZBED6CL, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF777, ZNF783, ZNF786, ZNF862, ZYX 2 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 2 2
ACADM 2 2
ACP5, ANGPTL8, AP1M2, ATG4D, C19orf38, CARM1, CCDC159, CDKN2D, CNN1, DHPS, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FBXW9, ILF3, KANK2, KRI1, LDLR, MAN2B1, MIR199A1, ODAD3, PRKCSH, QTRT1, RAB3D, RGL3, SLC44A2, SMARCA4, SPC24, SWSAP1, TIMM29, TMED1, TMEM205, TNPO2, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 2 2
AFG2A 2 2
AFG2B 2 2
AGL 2 2
AHDC1 2 2
AICDA 2 2
AKAP9 2 2
ALDH18A1 2 2
ALDH3A2 2 2
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 2 2
ALOXE3 2 2
ALPL 2 2
AMPD1 2 2
AP4S1 2 2
APOB 2 2
ARHGEF15 2 2
ARHGEF9 2 2
ARID1A 2 2
ARID1B 2 2
ARSA 2 2
ASPM 2 2
ATP13A2 2 2
ATP6V0E2, C7orf33, CNTNAP2, CUL1, EZH2, KRBA1, LOC100134040, PDIA4, RNY1, RNY3, RNY4, RNY5, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF777, ZNF783, ZNF786, ZNF862 2 2
B3GALT6 2 2
BAP1 2 2
BCAP31 2 2
BCHE 2 2
BICD2 2 2
BLOC1S1-RDH5, RDH5 2 2
BMPR1A 2 2
BMPR1B 2 2
BRAF 2 2
BRAT1 2 2
BRCA1, LOC126862571 2 2
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 2 2
BRWD1 2 2
C1QC 2 2
CACNA1B 2 2
CACNA1C 2 2
CACNA1D 2 2
CACNA2D3 2 2
CACNB2 2 2
CAMSAP1 2 2
CARD14 2 2
CARD14, LOC126862662, SGSH 2 2
CASP10 2 2
CBL 2 2
CCBE1 2 2
CCDC141 2 2
CDK13 2 2
CDK5RAP2 2 2
CDKN2A 2 2
CHD1 2 2
CHD3 2 2
CHD7 2 2
CHD8 2 2
CHIT1 2 2
CHN1 2 2
CHRNA7 2 2
CLCN1 2 2
CLDN16 2 2
CNOT1 2 2
COL1A1, LOC126862586 2 2
COL4A1 2 2
COPA 2 2
CPT2 2 2
CR2 2 2
CSNK2B 2 2
CTC1 2 2
CYP27A1 2 2
DCHS1 2 2
DDOST 2 2
DDX11 2 2
DICER1 2 2
DLG3 2 2
DNMT3B 2 2
DNMT3B, LOC126863014 2 2
DOCK8, LOC126860552 2 2
DRP2 2 2
DYNC2H1 2 2
DYRK1A 2 2
EGFR 2 2
EIF2B2 2 2
ELP2 2 2
ELP3 2 2
EMC1 2 2
EPS8 2 2
EXT1 2 2
FANCM 2 2
FASN 2 2
FBLN5 2 2
FERMT1 2 2
FH 2 2
FKRP 2 2
FLNB 2 2
FSHR 2 2
GABRB2 2 2
GABRG2 2 2
GALC 2 2
GATAD2B 2 2
GBE1 2 2
GCK 2 2
GH-LCR, SCN4A 2 2
GNB5 2 2
GOLGA6L6 2 2
GOSR2, LRRC37A2 2 2
GPT2 2 2
GRIA3 2 2
GRIN2A 2 2
GUSB 2 2
GYS1 2 2
HBB, LOC106099062, LOC107133510 2 2
HFE 2 2
HIF1A, PRKCH, SNAPC1, SYT16, TMEM30B 2 2
HPRT1 2 2
HRAS, LRRC56 2 2
HSD17B10 2 2
HSPB8 2 2
HSPG2 2 2
IDUA 2 2
IFIH1 2 2
IFNGR1 2 2
IL10RA 2 2
IL2RA 2 2
IMMP2L 2 2
ISG15 2 2
ITGA7 2 2
ITPA 2 2
KCNA1 2 2
KCNE1, KCNE2, RCAN1, SMIM11 2 2
KCNH1 2 2
KCNQ1 2 2
KCNQ2 2 2
KCNQ3 2 2
KIAA0586 2 2
KLF8 2 2
KMT2B 2 2
LAMA1 2 2
LAMA2, LOC123864065 2 2
LIG4 2 2
LMBRD1 2 2
LNPK 2 2
LOC126806878, TBL1XR1 2 2
LOC126862264, MEFV 2 2
LOXHD1 2 2
LPIN2 2 2
LRP1 2 2
LRP5 2 2
LRPPRC 2 2
LRRC37A2, NSF 2 2
LRRC56 2 2
LRRK1 2 2
LZTR1 2 2
MATR3 2 2
MCCC2 2 2
MDN1 2 2
MECR 2 2
MED12 2 2
MEGF10 2 2
MEN1 2 2
MET 2 2
MITF 2 2
MME 2 2
MMUT 2 2
MPZ 2 2
MRPL3 2 2
MRPL44 2 2
MSL3 2 2
MSRB3 2 2
MT-CO2 2 2
MT-CO3 2 2
MT-ND1 2 2
MT-ND2 2 2
MT-ND6 2 2
MT-TA 2 2
MT-TH 2 2
MT-TW 2 2
MUTYH 2 2
MYH11, NDE1 2 2
MYO18B 2 2
NALCN 2 2
NARS2 2 2
NFIB 2 2
NIN 2 2
NLRC4 2 2
NT5E 2 2
OCA2 2 2
OPHN1 2 2
ORAI1 2 2
OTOG 2 2
PAPPA2 2 2
PAX6 2 2
PC 2 2
PDCD10 2 2
PDE6B 2 2
PDHX 2 2
PEX6 2 2
PHIP 2 2
PIGL 2 2
PIGO 2 2
PKD1 2 2
PLXNA3 2 2
PNPLA6 2 2
PNPT1 2 2
POLR3A 2 2
PPM1D 2 2
PPT1 2 2
PRF1 2 2
PRKAR1A 2 2
PRMT7 2 2
PTCH1 2 2
PTCH2 2 2
PTEN 2 2
PTPRD 2 2
RB1 2 2
RECQL 2 2
RECQL4 2 2
ROCK2 2 2
RPE65 2 2
RRM2B 2 2
RSRC1 2 2
SCAF1 2 2
SCAPER 2 2
SCN11A 2 2
SCN1A, SCN9A 2 2
SCN1B 2 2
SCNN1B 2 2
SDHA 2 2
SETBP1 2 2
SHANK3 2 2
SLC4A1 2 2
SMAD3 2 2
SMYD3 2 2
SNX14 2 2
SON 2 2
SP110, SP140 2 2
SPANXA1, SPANXA2 2 2
SPEG 2 2
SQSTM1 2 2
STAT1 2 2
STAT3 2 2
STING1 2 2
SYN1 2 2
SYNE2 2 2
SYNGAP1 2 2
SYNJ1 2 2
TANC2 2 2
TAP1 2 2
TBC1D24 2 2
TBX1 2 2
TCF12 2 2
TCF4 2 2
TECPR2 2 2
TLK2 2 2
TMLHE 2 2
TNRC6B 2 2
TPP2 2 2
TRAF3IP2 2 2
TRIOBP 2 2
TSC2 2 2
TSEN54 2 2
TTR 2 2
TUBA1A 2 2
TUBB 2 2
UNC80 2 2
USP7 2 2
USP9X 2 2
UTRN 2 2
WDR45 2 2
ZBTB20 2 2
ZFHX4 2 2
ZNF335 2 2
ZNF595 2 2
ZSWIM6 2 2
A2ML1 1 1
AARS1 1 1
AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, AGRP, ANKRD11, AP1G1, APRT, ATMIN, ATP2C2, ATP6V0D1, ATXN1L, B3GNT9, BANP, BCAR1, BCO1, BEAN1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPNE7, CRISPLD2, CTCF, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19B, DDX28, DEF8, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP3, DRC4, DUS2, DYNC1LI2, DYNLRB2, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FOXC2, FOXF1, FOXL1, GABARAPL2, GALNS, GAN, GAS8, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KLHDC4, KLHL36, LCAT, LDHD, LINC01082, LOC101927817, LOC101928417, LOC400541, LRRC29, LRRC36, MAF, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR140, MIR328, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAT1L, VPS4A, VPS9D1, WDR59, WFDC1, WWOX, WWP2, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF821, ZNRF1 1 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 1
ABAT 1 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 1 1
ABCA12, ATIC, BARD1, FN1 1 1
ABCB10, ACBD3, ACTA1, ACTN2, AGT, ARF1, ARID4B, ARV1, B3GALNT2, BTNL10, C1orf198, C1orf35, CAPN9, CCSAP, CDC42BPA, CHML, CHRM3, CNIH3, CNIH4, COA6, COG2, COQ8A, DEGS1, DISC1, DISC2, DNAH14, EDARADD, EGLN1, ENAH, EPHX1, ERO1B, EXO1, EXOC8, FAM89A, FBXO28, FH, FMN2, FSAF1, GALNT2, GGPS1, GJC2, GNG4, GNPAT, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-4, HEATR1, IBA57, IRF2BP2, ITPKB, JMJD4, KCNK1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LIN9, LNCATV, LYST, MAP10, MAP1LC3C, MAP3K21, MIXL1, MRPL55, MT1HL1, MTR, NID1, NTPCR, NUP133, NVL, OBSCN, OPN3, PARP1, PCNX2, PGBD5, PLD5, PRSS38, PSEN2, PYCR2, RAB4A, RBM34, RGS7, RHOU, RNF187, RYR2, SDE2, SIPA1L2, SLC35F3, SNAP47, SPHAR, SPRTN, SRP9, STUM, TAF5L, TARBP1, TBCE, TMEM63A, TOMM20, TRIM11, TRIM17, TRIM67, TSNAX, TTC13, URB2, WDR26, WDR64, WNT3A, WNT9A, ZNF678, ZP4 1 1
ABCB4 1 1
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ARHGEF35, ARHGEF5, ASB10, ASIC3, ATG9B, ATP6V0E2, C7orf33, CDK5, CHPF2, CNPY1, CNTNAP2, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CUL1, EN2, EZH2, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, HTR5A, INSIG1, KCNH2, KMT2C, KRABD3, LMBR1, LOC100134040, LRRC61, MIR671, MNX1, NOBOX, NOM1, NOS3, NUB1, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, PAXIP1, PDIA4, PRKAG2, RARRES2, RBM33, REPIN1, RHEB, RNF32, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TAS2R41, TAS2R60, TCAF1, TCAF2, TMEM176A, TMEM176B, TMUB1, TPK1, WDR86, XRCC2, ZBED6CL, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF777, ZNF783, ZNF786, ZNF862 1 1
ABCC1 1 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, XYLT1 1 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1, NOMO3, XYLT1 1 1
ABCC9, KCNJ8 1 1
ABHD11 1 1
ABHD13, ADPRHL1, ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, ATP4B, CARS2, CDC16, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GRTP1, ING1, IRS2, LAMP1, LIG4, LINC00567, MCF2L, MYO16, NALF1, NAXD, PCID2, PROZ, RAB20, RASA3, SLC9D1, SOX1, SPACA7, SWINGN, TEX29, TFDP1, TMEM255B, TNFSF13B, TUBGCP3, UPF3A 1 1
ABHD3, AFG3L2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, APCDD1, AQP4, ARHGAP28, CABLES1, CABYR, CDH2, CEP192, CEP76, CHMP1B, CHST9, CIDEA, CTAGE1, EPB41L3, ESCO1, FAM210A, GATA6, GNAL, GREB1L, HRH4, IMPA2, IMPACT, KCTD1, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LRRC30, MC2R, MC5R, MIB1, MIR1-2, MIR133A1, MPPE1, MTCL1, NAPG, NDUFV2, NPC1, OSBPL1A, PIEZO2, POTEC, PPP4R1, PRELID3A, PSMA8, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RBBP8, RIOK3, RMC1, RNMT, ROCK1, SEH1L, SLC35D4, SLC35G4, SNRPD1, SPIRE1, SS18, TAF4B, TMEM200C, TTC39C, TUBB6, TWSG1, TXNDC2, VAPA, ZNF519, ZNF521 1 1
ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, APEX1, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf93, CARMIL3, CBLN3, CCNB1IP1, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGLN3, EMC9, FAM177A1, FBXO33, FITM1, FOXA1, FOXG1, G2E3, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHL33, LRFN5, LRP10, LTB4R, LTB4R2, MBIP, MDP1, METTL17, METTL3, MIA2, MIPOL1, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-8, NOP9, NOVA1, NPAS3, NRL, NUBPL, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6S1, OSGEP, OXA1L, PABPN1, PARP2, PAX9, PCK2, PIP4P1, PNN, PNP, PPP1R3E, PPP2R3C, PRKD1, PRMT5, PRORP, PSMA6, PSMB11, PSMB5, PSME1, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPPH1, SALL2, SCFD1, SDR39U1, SEC23A, SFTA3, SLC22A17, SLC25A21, SLC39A2, SLC7A7, SLC7A8, SNX6, SPTSSA, SRP54, SSTR1, STRN3, STXBP6, SUPT16H, TEP1, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOX4, TPPP2, TRA, TRAPPC6B, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSSK4, TTC5, TTC6, ZFHX2, ZNF219 1 1
ABI1, ACBD5, ACBD7, ADARB2, AGAP10, AGAP4, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DIP2C, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, FAM107B, FAM171A1, FAM25E, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GDI2, GJD4, GPR158, GPRIN2, GTPBP4, HACD1, HNRNPF, HSPA14, IDI1, IDI2, IL15RA, IL2RA, ITGA8, ITGB1, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, KLF6, LARP4B, LYZL1, LYZL2, MAP3K8, MARCHF8, MASTL, MCM10, MEIG1, MINDY3, MIR1915, MIR1915HG, MKX, MLLT10, MPP7, MSRB2, MTPAP, MTRNR2L7, MYO3A, NEBL, NET1, NMT2, NPY4R, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PDSS1, PFKFB3, PFKP, PHYH, PIP4K2A, PITRM1, PLXDC2, PRINS, PRKCQ, PROSER2, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, RAB18, RASGEF1A, RASSF4, RBM17, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SPAG6, ST8SIA6, STAM, SUV39H2, SVIL, SYT15, TAF3, TASOR2, THNSL1, TMEM72, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM, WAC, WASHC2C, WDR37, YME1L1, ZEB1, ZFAND4, ZMYND11, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485 1 1
ABL1 1 1
ABL2 1 1
ABR, BHLHA9, CRK, INPP5K, MYO1C, PITPNA, PRPF8, RILP, SCARF1, SLC43A2, TRARG1, YWHAE 1 1
ABRACL, ARFGEF3, BCLAF1, CCDC28A, CITED2, ECT2L, HEBP2, HECA, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, NHSL1, OLIG3, PBOV1, PDE7B, PERP, PEX7, REPS1, SLC35D3, TNFAIP3, TXLNB 1 1
ACACA 1 1
ACAD8 1 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, NCAPD3, NFRKB, NTM, OPCML, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, RPUSD4, SIRAL1, SNX19, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, THYN1, TIRAP, TMEM45B, TP53AIP1, VPS26B, ZBTB44 1 1
ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ANKRD13C-DT, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAI4, DNAJB4, DNASE2B, DYNLT5, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-DT, ZZZ3 1 1
ACAP2, ATP13A3, FAM43A, LSG1, TMEM44, XXYLT1 1 1
ACBD6, LHX4 1 1
ACD 1 1
ACD, LOC130059224 1 1
ACKR3 1 1
ACO2, PHF5A, POLR3H, TEF, TOB2, ZC3H7B 1 1
ACOT11, CIMAP2, FAM151A, MROH7, PARS2, TTC22, TTC4 1 1
ACOT12, ANKRD34B, ATG10, ATP6AP1L, CKMT2, DHFR, EDIL3, FAM151B, HAPLN1, MSH3, MTRNR2L2, MTX3, RASGRF2, RPS23, SCARNA18, SERINC5, SPZ1, SSBP2, THBS4, TMEM167A, VCAN, XRCC4, ZCCHC9, ZFYVE16 1 1
ACOT2, HEATR4 1 1
ACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, RGPD8, TMEM87B, ZC3H6, ZC3H8 1 1
ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, BAX, BCAT2, BCL2L12, BICRA, BSPH1, C19orf73, C19orf81, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CD33, CD37, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CPT1C, CRX, CTU1, CYTH2, DBP, DHDH, DKKL1, DPRX, EHD2, ELSPBP1, EMC10, EMP3, ERVV-1, ERVV-2, ETFB, FAM83E, FCGRT, FGF21, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GARIN5A, GPR32, GRIN2D, GRWD1, GYS1, HAS1, HRC, HSD17B14, IGLON5, IL4I1, IRF3, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KPTN, LHB, LIG1, LIM2, LIN7B, LMTK3, LRRC4B, MAMSTR, MED25, MIR125A, MIR150, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MYADM, MYBPC2, MYH14, NAPA, NAPSA, NDUFA3, NKG7, NLRP12, NOP53, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUP62, ODAD1, OSCAR, PIH1D1, PLA2G4C, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R15A, PPP2R1A, PRKCG, PRMT1, PRPF31, PRR12, PRRG2, PTH2, PTOV1, RASIP1, RCN3, RPL13A, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SELENOW, SHANK1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC6A16, SLC8A2, SNRNP70, SPACA4, SPHK2, SPIB, SULT2A1, SULT2B1, SYNGR4, SYT3, TARM1, TBC1D17, TEAD2, TFPT, TMEM143, TPRX1, TRPM4, TSKS, TULP2, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, ZNF114, ZNF160, ZNF175, ZNF28, ZNF320, ZNF331, ZNF347, ZNF350, ZNF415, ZNF432, ZNF468, ZNF473, ZNF480, ZNF528, ZNF534, ZNF541, ZNF577, ZNF578, ZNF600, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF665, ZNF677, ZNF701, ZNF761, ZNF765, ZNF766, ZNF808, ZNF813, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF836, ZNF841, ZNF845, ZNF880, ZNF888, ZSWIM9 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPHRA, GPHRB, NBPF11, NBPF12, PDZK1, PRKAB2 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPHRB, PRKAB2 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101927817, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZCCHC14-DT, ZFPM1, ZNF469, ZNF778 1 1
ACSF3, APRT, CBFA2T3, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469 1 1
ACSM5 1 1
ACTA2 1 1
ACTC1, GJD2-DT 1 1
ACTG1 1 1
ACTG2 1 1
ACVR1, ACVR1C, ARL6IP6, CCDC148, CYTIP, DAPL1, ERMN, FMNL2, GALNT13, GALNT5, GPD2, KCNJ3, NR4A2, PKP4, PRPF40A, RPRM, STAM2, TANC1, UPP2 1 1
ACVR1, ACVR1C, BAZ2B, CCDC148, CD302, CYTIP, DAPL1, ERMN, GALNT5, GPD2, ITGB6, LY75, LY75-CD302, MARCHF7, NR4A2, PKP4, PLA2R1, RBMS1, TANC1, TANK, UPP2, WDSUB1 1 1
ACVR2A, MBD5, ORC4 1 1
ACYP1, NPC2 1 1
ADAM17, IAH1 1 1
ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNJL, CLINT1, CYFIP2, EBF1, FABP6, FAM200C, FNDC9, GABRA1, GABRA6, GABRB2, GABRG2, GARIN3, HAVCR1, HAVCR2, IL12B, ITK, LSM11, MED7, MIR146A, NIPAL4, PTTG1, PWWP2A, RNF145, SGCD, SLU7, SOX30, THG1L, TIMD4, TTC1, UBLCP1 1 1
ADAM28, ADAM7, ADAMDEC1, ADRA1A, ASAH1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FBXO16, FGF17, FGL1, FHIP2B, FZD3, GFRA2, GNRH1, GSR, GTF2E2, HMBOX1, HR, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LOXL2, LPL, LZTS1, MBOAT4, MIR320A, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NRG1, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, PNOC, POLR3D, PPP2CB, PPP2R2A, PPP3CC, PSD3, PTK2B, PURG, R3HCC1, RBPMS, REEP4, RHOBTB2, SARAF, SCARA3, SCARA5, SFTPC, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SMIM18, SORBS3, STC1, STMN4, TEX15, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, UBXN8, VPS37A, WRN, XPO7, ZDHHC2, ZNF395 1 1
ADAM28, ADAM7, ADAMDEC1, AGPAT5, ANGPT2, ARHGEF10, ASAH1, ATP6V1B2, BIN3, BLK, BMP1, C8orf48, C8orf58, C8orf74, CCAR2, CDCA2, CHMP7, CLDN23, CLN8, CNOT7, CSGALNACT1, CSMD1, CTSB, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DMTN, DOCK5, DOK2, EGR3, ENTPD4, ERI1, ERICH1, FAM167A, FAM86B1, FAM86B2, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, GATA4, GFRA2, GNRH1, HR, INTS10, KBTBD11, KCTD9, LGI3, LONRF1, LOXL2, LPL, LZTS1, MCPH1, MFHAS1, MICU3, MIR124-1, MIR320A, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MYOM2, NAT1, NAT2, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PIWIL2, POLR3D, PPP1R3B, PPP3CC, PRSS51, PRSS55, PSD3, R3HCC1, REEP4, RHOBTB2, RP1L1, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SORBS3, SOX7, SPAG11A, SPAG11B, STC1, TDRP, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRMT9B, TUSC3, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VPS37A, XKR5, XKR6, XPO7, ZDHHC2, ZNF596, ZNF705B, ZNF705D, ZNF705G 1 1
ADAMTSL4 1 1
ADAP2, NF1, RNF135, TEFM 1 1
ADAR, LOC129931512 1 1
ADARB2, AKR1C1, AKR1C2, AKR1E2, DIP2C, GTPBP4, IDI1, IDI2, KLF6, LARP4B, PFKP, PITRM1, WDR37, ZMYND11 1 1
ADAT2 1 1
ADCY3, CENPO, DNAJC27, DNMT3A, DTNB, EFR3B, FAM228A, FAM228B, FKBP1B, ITSN2, MFSD2B, NCOA1, PFN4, POMC, PTRHD1, SF3B6, TP53I3, WDCP 1 1
ADGRB1 1 1
ADGRV1 1 1
ADI1, EIPR1, MYT1L, PXDN, TRAPPC12 1 1
ADIPOR1, ADORA1, ARL8A, ASCL5, ASPM, ATP2B4, ATP6V1G3, AVPR1B, BTG2, C1orf116, C1orf53, C1orf74, C4BPA, C4BPB, CACNA1S, CAMK1G, CAMSAP2, CD34, CD46, CD55, CDK18, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CRB1, CSRP1, CTSE, CYB5R1, DDX59, DENND1B, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, F13B, FAM72A, FCAMR, FCMR, FMOD, G0S2, GOLT1A, GPR25, GPR37L1, HHAT, HSD11B1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, IRF6, KCNH1, KCNT2, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAMB3, LAX1, LEMD1, LGR6, LHX9, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR181A1, MIR181B1, MIR205, MIR205HG, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NEK7, NFASC, NR5A2, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, PTPRC, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SERTAD4, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT14, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, TRAF3IP3, UBE2T, UTP25, YOD1, ZBED6, ZBTB41, ZC3H11A, ZNF281 1 1
ADNP 1 1
ADORA2A, CRYBB2, CRYBB3, GGT1, GRK3, GUCD1, KIAA1671, LHFPL7, LRRC75B, PIWIL3, SGSM1, SNRPD3, SPECC1L, UPB1 1 1
ADORA2B, ARHGAP44, CDRT15, CDRT4, COX10, ELAC2, FBXW10B, HS3ST3A1, HS3ST3B1, MYOCD, NCOR1, PMP22, TBC1D26, TEKT3, TRIM16, TTC19, TVP23C, TVP23C-CDRT4, ZNF286A, ZSWIM7 1 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1 1
ADPRS 1 1
ADRA2B 1 1
ADSS1 1 1
AFF4 1 1
AFG3L2 1 1
AGAP10, AGAP4, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488 1 1
AGAP2 1 1
AGO2 1 1
AGO2, CHRAC1, TRAPPC9 1 1
AGTPBP1 1 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, LAMTOR5, MIR197, MYBPHL, NBPF6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, WDR47 1 1
AHNAK2 1 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 1 1
AIMP1 1 1
AIPL1 1 1
AK3, CDC37L1, DMRT1, DMRT2, DMRT3, DOCK8, GLIS3, KANK1, KCNV2, PLPP6, PUM3, RFX3, SLC1A1, SMARCA2, SPATA6L, VLDLR 1 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 1
AKT3 1 1
ALDH1B1 1 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 1
ALDOA, ASPHD1, C16orf54, CDIPT, DOC2A, FIMP1, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 1
ALDOA, LOC112694756 1 1
ALDOB 1 1
ALG11, ATP7B, CCDC70, CKAP2, CNMD, DHRS12, FAM124A, HNRNPA1L2, INTS6, LINC00558, NEK3, NEK5, OLFM4, PCDH8, SERPINE3, SUGT1, THSD1, UTP14C, VPS36, WDFY2 1 1
ALG13 1 1
ALG2 1 1
ALK 1 1
ALOX15, GGT6, MYBBP1A, SMTNL2, SPNS2 1 1
ALPK3 1 1
AMELY, FAM197Y1P, FAM197Y9, PCDH11Y, RPS4Y1, SRY, TBL1Y, TGIF2LY, TSPY1, TSPY10, TSPY2, TSPY3, TSPY4, TSPY8, TTTY11, TTTY12, TTTY13B, TTTY16, TTTY18, TTTY19, TTTY1B, TTTY20, TTTY21B, TTTY23B, TTTY2B, TTTY7, TTTY8, TTTY8B, ZFY 1 1
AMN, ANKRD9, CDC42BPB, EXOC3L4, RCOR1, TECPR2, TNFAIP2, TRAF3 1 1
AMPH, CDK13, MPLKIP, POU6F2, RALA, SUGCT, VPS41, YAE1 1 1
ANK2, LOC126807137 1 1
ANKFY1, CYB5D2, GGT6, MYBBP1A, SMTNL2, SPNS2, SPNS3, UBE2G1, ZZEF1 1 1
ANKRD1 1 1
ANKRD26 1 1
ANKRD34A, ANKRD35, CD160, GPHRA, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 1
ANLN 1 1
ANO5, LOC130005437, LOC130005438, LOC130005439, LOC130005440, LOC130005441, LOC130005442 1 1
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HBB, HBD, HBE1, HBG1, HBG2, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MMP26, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP6, NUP98, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52D1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC25A22, SLC67A1, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 1 1
ANOS1, NLGN4X, PNPLA4, PUDP, STS, VCX, VCX2, VCX3A, VCX3B 1 1
AP1S2 1 1
AP2B1 1 1
AP5Z1 1 1
APBA2, ENTREP2, GOLGA8J, GOLGA8M, NSMCE3, TJP1 1 1
APC, LOC129994371 1 1
APLNR, BTBD18, CLP1, LRRC55, MED19, MIR130A, OR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AK2, OR5AP2, OR5AR1, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, TRIM48, TRIM51, UBE2L6, YPEL4, ZDHHC5 1 1
APOBR, AQP8, ARHGAP17, ATP2A1, ATXN2L, BOLA2, C16orf82, CACNG3, CD19, CDR2, CHP2, CLN3, COG7, CRYM, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, METTL9, MOSMO, NDUFAB1, NFATC2IP, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SLX1B, SPNS1, SULT1A1, SULT1A2, SULT1A4, TNRC6A, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2 1 1
AR 1 1
ARFGEF2 1 1
ARG1, MED23 1 1
ARHGAP8, PRR5-ARHGAP8 1 1
ARID2 1 1
ARID4B 1 1
ARL6IP5, EOGT, LMOD3, TAFA1, TAFA4, TMF1, UBA3 1 1
ARPC4, ARPC4-TTLL3 1 1
ARSL 1 1
ARX 1 1
ASAH1 1 1
ASH1L 1 1
ASIC4, SPEG 1 1
ASPA, SPATA22 1 1
ASS1 1 1
ASTN1 1 1
ASTN2 1 1
ATAD3A 1 1
ATF2, ATP5MC3, CHN1, CHRNA1, CIRSR, EVX2, GPR155, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, LNPK, MIR10B, MTX2, OLA1, SCRN3, SP3, SP9, WIPF1 1 1
ATG7, HRH1, SLC6A1, SLC6A11, SYN2, TAMM41, TIMP4, VGLL4 1 1
ATP1A4 1 1
ATP2A1 1 1
ATP2A1, ATXN2L, CD19, LAT, LOC112340393, LOC129390780, LOC129390781, LOC129390782, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 1 1
ATP2A3, CAMKK1, CTNS, EMC6, HASPIN, ITGAE, NCBP3, P2RX1, P2RX5, TAX1BP3, ZZEF1 1 1
ATP2B1 1 1
ATP5PO, CRYZL1, DNAJC28, DONSON, GART, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE2, MRPS6, OLIG1, OLIG2, SLC5A3, SMIM11, SON, TMEM50B 1 1
ATP7A 1 1
ATRX, MAGT1 1 1
ATXN7L3, UBTF 1 1
AVEN, RYR3 1 1
AVPR2 1 1
B3GLCT, BRCA2, DCLK1, FRY, KL, MAB21L1, N4BP2L1, N4BP2L2, NBEA, PDS5B, RFC3, RXFP2, STARD13, ZAR1L 1 1
B4GALNT1 1 1
B4GAT1 1 1
BACH2, MAP3K7 1 1
BAZ1B 1 1
BBS1 1 1
BBS1, ZDHHC24 1 1
BCKDHB 1 1
BCL11B 1 1
BFAR, NPIPA2, NPIPA3, PARN, PLA2G10 1 1
BIN1 1 1
BIN1, CYP27C1, ERCC3, MAP3K2 1 1
BLNK 1 1
BMAL2, PPFIBP1, SMCO2, STK38L 1 1
BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PPIE 1 1
BOLA2, CORO1A 1 1
BPTF 1 1
BRCA2, FRY, ZAR1L 1 1
BRICD5, CASKIN1, E4F1, MIR1225, MLST8, NHERF2, NTHL1, PGP, PKD1, RAB26, TRAF7, TSC2 1 1
BRINP3 1 1
BRPF1 1 1
BRWD3 1 1
BTBD18, CLP1, CTNND1, MED19, MIR130A, OR6Q1, OR9Q1, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, TIMM10, TMX2, UBE2L6, YPEL4, ZDHHC5 1 1
BTRC, LBX1 1 1
C16orf74 1 1
C19orf12 1 1
C1QTNF5, MFRP 1 1
CA4, HEATR6 1 1
CACNA1A, LOC126862866 1 1
CACNA1E 1 1
CACNA1S 1 1
CACNG2, EIF3D, FOXRED2, TXN2 1 1
CALML4 1 1
CAMK2G 1 1
CAMTA1 1 1
CAMTA1, LOC129929266 1 1
CAPG 1 1
CAPN3, LOC126862115 1 1
CARD11 1 1
CARD14, SGSH 1 1
CARS2 1 1
CASD1, SGCE 1 1
CASP8 1 1
CASQ2 1 1
CASR 1 1
CAST, LOC101929710, PCSK1 1 1
CATIP, PNKD 1 1
CATSPER4 1 1
CBS 1 1
CCDC190 1 1
CCDC22 1 1
CCDC74B, MZT2B, POTEF, RAB6C, SMPD4, TUBA3E 1 1
CCDC85A, EFEMP1, MIR216A, MIR217 1 1
CCNO-DT, DHX29 1 1
CCSER1 1 1
CD160, GPR89A, PDZK1, RNF115 1 1
CD19 1 1
CD79B, GH-LCR 1 1
CDC73 1 1
CDK11A 1 1
CDK8 1 1
CDKL5 1 1
CDR2, EEF2K, IGSF6, METTL9, MOSMO, NPIPB4, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 1
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 1
CDT1 1 1
CEBPA 1 1
CEP135 1 1
CEP152 1 1
CEP19, DLG1, MELTF, NCBP2, NRROS, PAK2, PIGX, PIGZ, SENP5 1 1
CERCAM, DYNC2I2, GLE1, ODF2, PKN3, SET, SPTAN1, ZDHHC12, ZER1 1 1
CERT1 1 1
CETN2, CSAG1, MAGEA2, MAGEA3, NSDHL 1 1
CFAP157, LOC130002654, PTRH1 1 1
CFAP276, CLCC1, ELAPOR1, GPSM2, SARS1, TAF13, TMEM167B, WDR47 1 1
CFAP47, FAM47B, FAM47C, MAGEB16, TMEM47 1 1
CGAS, LOC129996719 1 1
CHAMP1, UPF3A 1 1
CHAT 1 1
CHCHD10 1 1
CHD2, LOC126862230 1 1
CHD5 1 1
CHKB, CHKB-CPT1B 1 1
CHL1, CNTN6 1 1
CHM 1 1
CHMP2B 1 1
CHRNA4, LOC126863087 1 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 1
CHRNB2 1 1
CHRNG, TIGD1 1 1
CHST14 1 1
CITED1, ERCC6L, HDAC8, PIN4, RPS4X 1 1
CIZ1 1 1
CLASP1, RNU4ATAC 1 1
CLCN4 1 1
CLCN7 1 1
CLN3 1 1
CLN5 1 1
CLN8 1 1
CLPP 1 1
CLRN1 1 1
CLTC 1 1
CLUH 1 1
CLVS2, FABP7, FAM184A, GJA1, HDDC2, HEY2, HSF2, MAN1A1, MCM9, NKAIN2, PKIB, RNF217, SERINC1, SMPDL3A, TBC1D32, TPD52L1, TRDN 1 1
CMPK2, RNF144A, RSAD2, SOX11 1 1
CNGA1, LOC101927157 1 1
CNOT3 1 1
CNST, SMYD3, TFB2M 1 1
CNTF, GLYAT, GLYATL1, GLYATL2, LPXN, OR5B21, ZFP91 1 1
CNTN6 1 1
COASY, LOC130060908 1 1
COG6 1 1
COL15A1 1 1
COL17A1 1 1
COL28A1, GLCCI1, MIOS, RPA3 1 1
COL4A3, MFF-DT 1 1
COL4A4 1 1
COL4A5 1 1
COL4A6 1 1
COL9A2 1 1
COL9A3 1 1
COLQ 1 1
COMT, TXNRD2 1 1
COQ7 1 1
COQ7, COQ7-DT, LOC130058587 1 1
COQ9 1 1
CORO7-PAM16, PAM16 1 1
CPNE1, RBM12 1 1
CPNE6, LOC126861900 1 1
CPOX 1 1
CPPED1 1 1
CRADD 1 1
CRAT 1 1
CREBBP 1 1
CRELD1, IL17RC, LOC129936144 1 1
CRPPA 1 1
CRTAP 1 1
CRTC2 1 1
CSF1R 1 1
CSF2RA 1 1
CSMD3 1 1
CSNK2A1 1 1
CTCF 1 1
CTLA4 1 1
CTNNA1 1 1
CTNNA3 1 1
CTNNB1 1 1
CTR9 1 1
CTSC 1 1
CUBN 1 1
CYLD, NOD2 1 1
CYP11B2, LOC106799834 1 1
CYP19A1, MIR4713HG, PIRC66 1 1
CYP1B1 1 1
CYP21A2, LOC106780800 1 1
CYP2U1, HADH, LEF1, PAPSS1, SGMS2 1 1
CYP3A5, ZSCAN25 1 1
DAG1 1 1
DBNL, PGAM2 1 1
DCAF8 1 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 1
DCHS2, FGA, FGB, FGG, LRAT, PLRG1, RBM46 1 1
DCHS2, MND1, RNF175, SFRP2, TLR2, TMEM131L, TRIM2 1 1
DCLRE1C 1 1
DDHD1 1 1
DDTL, DERL3, GSTT2B, MIF, SLC2A11, SMARCB1 1 1
DDX17 1 1
DGCR2, ESS2, GSC2, SLC25A1, TSSK2 1 1
DGKZ, LOC126861204 1 1
DGUOK, LOC129934096 1 1
DHTKD1 1 1
DHX29 1 1
DIABLO 1 1
DIP2C 1 1
DLC1, LONRF1, TRMT9B 1 1
DLGAP2 1 1
DMAC2, LOC110121465 1 1
DMP1, DSPP 1 1
DMXL2 1 1
DMXL2, GLDN 1 1
DNAH1 1 1
DNAH10 1 1
DNAH14 1 1
DNAJB13 1 1
DNAJB6, DYNC2I1, ESYT2, NCAPG2, PTPRN2, UBE3C, VIPR2 1 1
DNAJC19 1 1
DNM1 1 1
DNMT1 1 1
DOCK10 1 1
DOCK2, LOC126807589 1 1
DOCK3 1 1
DOCK6 1 1
DOK7 1 1
DOP1B 1 1
DPAGT1 1 1
DPYD 1 1
DRC4, GAS8, PRDM7 1 1
DSC2 1 1
DSC2, DSG2 1 1
DSCAM 1 1
DSE 1 1
DSG1, DSG4 1 1
DSG2 1 1
DSP 1 1
DTNA 1 1
DUSP19, FSIP2, NCKAP1, NUP35, ZC3H15, ZNF804A 1 1
DVL1 1 1
DYSF, LOC122787137 1 1
DYTN 1 1
EBF3 1 1
ECHS1 1 1
EDNRB 1 1
EEF1A2 1 1
EEF2 1 1
EEF2, LOC130063169 1 1
EFCAB5 1 1
EFHC1 1 1
EIF2AK3 1 1
EIF5A 1 1
ELANE 1 1
ELK1 1 1
EMILIN1 1 1
EP300, LOC126863158 1 1
EPB41 1 1
EPCAM 1 1
EPG5 1 1
EPHB2 1 1
ERBB4 1 1
ERC1, RAD52 1 1
ESPN 1 1
ETFDH 1 1
ETHE1 1 1
EXOC4 1 1
EXOSC8 1 1
EXT2 1 1
EYA1 1 1
EZH2 1 1
F11 1 1
F5 1 1
FAF1 1 1
FAM111A 1 1
FAM117B 1 1
FAM90A20 1 1
FANCA, LOC112486223 1 1
FANCE 1 1
FANCI, POLG 1 1
FAS 1 1
FASLG 1 1
FAT1 1 1
FAT4 1 1
FBN1, LOC130057019 1 1
FBN2, LOC126807501 1 1
FBP1 1 1
FBXO11 1 1
FBXO11, MSH6 1 1
FBXO38 1 1
FBXW11 1 1
FBXW4 1 1
FDPS, RUSC1 1 1
FERMT3 1 1
FES, FURIN, HDDC3, MAN2A2, UNC45A 1 1
FGF12 1 1
FGF8 1 1
FGFR3 1 1
FHL1 1 1
FKBP14 1 1
FLT3 1 1
FN1 1 1
FOXE3, LINC01389 1 1
FOXP1 1 1
FOXP2 1 1
FOXP4 1 1
FTSJ1 1 1
FYB2 1 1
FZD4 1 1
G6PD 1 1
GABBR1 1 1
GABRA6 1 1
GABRB3 1 1
GABRG1 1 1
GADD45GIP1 1 1
GALNT12 1 1
GALNT2 1 1
GANAB 1 1
GARS1 1 1
GATA2 1 1
GATA3 1 1
GATA6 1 1
GATAD1, PEX1 1 1
GBA1, LOC106627981 1 1
GBA2 1 1
GCDH, LOC126862860, SYCE2 1 1
GFAP 1 1
GFER 1 1
GGCX 1 1
GIPC3 1 1
GJC2 1 1
GLB1 1 1
GLMN 1 1
GLRA1 1 1
GLT1D1, SLC15A4, TMEM132C, TMEM132D 1 1
GNB1 1 1
GNE 1 1
GP1BA 1 1
GP9 1 1
GPHN, RDH11 1 1
GPR179 1 1
GRHPR 1 1
GRIA1 1 1
GRIA2 1 1
GRIN2D, LOC130064856 1 1
GRM1, LOC126859821 1 1
GRM5 1 1
GRM6, ZNF454 1 1
GUCY2C 1 1
GYG2 1 1
H3-3A 1 1
HAO1, PLCB1, TMX4 1 1
HBA-LCR, NPRL3 1 1
HBA1 1 1
HBA1, HBA2, LOC106804612 1 1
HBA1, HBA2, LOC106804612, LOC106804613 1 1
HCN1 1 1
HCN2 1 1
HCN4 1 1
HDAC4 1 1
HEATR9 1 1
HEPACAM 1 1
HEXA 1 1
HGSNAT 1 1
HIP1 1 1
HIVEP2 1 1
HK3 1 1
HLA-A 1 1
HMGA2 1 1
HNF1B 1 1
HNRNPC 1 1
HNRNPR 1 1
HOXB13 1 1
HRC, PPFIA3, TRPM4 1 1
HSD17B4 1 1
HSF4 1 1
HSPB1 1 1
HTR2C, LOC126863306 1 1
HYOU1 1 1
IARS2, LOC129932529 1 1
IDS 1 1
IFT74 1 1
IGH 1 1
IGH, IGHD3-3, IGHV3-23 1 1
IGSF6, METTL9, OTOA 1 1
IL17F 1 1
IL21 1 1
IL36RN 1 1
INHBA 1 1
INSL6, JAK2 1 1
INTS1 1 1
IQCE 1 1
IQSEC2 1 1
IRF2BPL 1 1
ITPR1 1 1
JAGN1 1 1
JAK1 1 1
JMJD1C 1 1
KANK1 1 1
KAT6A 1 1
KAT6B 1 1
KATNIP, LOC126862323 1 1
KBTBD13 1 1
KCND3 1 1
KCNE1 1 1
KCNJ10 1 1
KCNJ11 1 1
KCNJ2 1 1
KCNJ6 1 1
KCNMA1 1 1
KCNQ4 1 1
KCNT1 1 1
KCNV2 1 1
KDM1A 1 1
KDM2A, RHOD, SYT12 1 1
KDM3B 1 1
KDM5B 1 1
KDM6B, LOC121587574 1 1
KIAA1210 1 1
KIDINS220 1 1
KIF1A, LOC126806583 1 1
KIF21B 1 1
KIF22 1 1
KIF5C 1 1
KIRREL3 1 1
KLF7 1 1
KMT2A 1 1
KMT2C 1 1
KMT5B 1 1
KRAS 1 1
KRBOX4 1 1
LAMA4 1 1
LAMP2 1 1
LAMTOR2 1 1
LANCL3, XK 1 1
LARGE1 1 1
LARS1 1 1
LBR 1 1
LDB3 1 1
LDB3, LOC110121486 1 1
LDOC1, SPANXC 1 1
LHCGR, STON1-GTF2A1L 1 1
LHFPL4, SETD5 1 1
LIPT1, MITD1 1 1
LMNA, LOC126805877 1 1
LMNB1 1 1
LOC101927055, TTN 1 1
LOC101928008, SBF2 1 1
LOC105378353, SLC29A3 1 1
LOC106113036, NF1 1 1
LOC106694316, MPO 1 1
LOC107303340, VHL 1 1
LOC107648851, TAP2 1 1
LOC108281177, SOX2, SOX2-OT 1 1
LOC112529895, SCO1 1 1
LOC112577486, PLOD1 1 1
LOC114803478, TRAF3IP2 1 1
LOC114827851, MYH6 1 1
LOC121627876, LTBP4 1 1
LOC126653398, TSPEAR 1 1
LOC126806192, NDUFAF7 1 1
LOC126806430, TTN 1 1
LOC126807323, TRIO 1 1
LOC126859646, VARS2 1 1
LOC126860794, NOTCH1 1 1
LOC126860802, ZMYND11 1 1
LOC126861365, TBCEL-TECTA, TECTA 1 1
LOC126861615, PAH 1 1
LOC126861897, MYH7 1 1
LOC126861898, MYH7 1 1
LOC126862611, TLK2 1 1
LOC129933606, ZFP36L2 1 1
LOC129935026, TBR1 1 1
LOC129935183, TTN 1 1
LOC129992813, PKD2 1 1
LOC129995144, THG1L 1 1
LOC130004274, PTEN 1 1
LOC130008987, ORAI1 1 1
LOC130056973, SPG11 1 1
LOC130063985, MPV17L2 1 1
LOC130064387, SARS2 1 1
LOC130064709, OPA3 1 1
LOC130064903, PPFIA3 1 1
LOC130065433, NDUFAF5 1 1
LOC130068621, NDUFA1 1 1
LPO, MPO 1 1
LRATD2 1 1
LRIT3 1 1
LRP4 1 1
LRP6 1 1
LRRC4, SND1 1 1
LRRK2 1 1
MACF1 1 1
MAGEC1 1 1
MAGEL2 1 1
MAN1B1 1 1
MANBA 1 1
MAP1A 1 1
MAP3K14 1 1
MAP3K7 1 1
MAPK8IP3 1 1
MAPT 1 1
MARK2 1 1
MARS2 1 1
MASP2 1 1
MAVS 1 1
MBL2 1 1
MC1R 1 1
MC4R 1 1
MCCC1 1 1
MEA1, PPP2R5D 1 1
MED12L, P2RY12 1 1
MED13 1 1
MED23 1 1
MED25 1 1
MEIS2 1 1
MERTK, TMEM87B 1 1
MFAP5 1 1
MFN1 1 1
MGME1 1 1
MHRT, MYH7 1 1
MIR6084, PINK1 1 1
MLYCD 1 1
MMAA 1 1
MMACHC 1 1
MORC2 1 1
MPDU1 1 1
MPI 1 1
MPST 1 1
MRE11 1 1
MRPS17, ZNF713 1 1
MRPS30 1 1
MS4A1 1 1
MSH3 1 1
MSL2 1 1
MT-ATP6, MT-ATP8 1 1
MT-ND4L 1 1
MT-RNR2 1 1
MT-TE 1 1
MT-TG 1 1
MT-TI 1 1
MT-TL1 1 1
MT-TL2 1 1
MT-TV 1 1
MT-TY 1 1
MTFMT 1 1
MTHFD2L 1 1
MTRFR 1 1
MTRR 1 1
MTTP 1 1
MVP-DT, PRRT2 1 1
MXRA5 1 1
MYBPC1 1 1
MYCBP2 1 1
MYD88 1 1
MYH14 1 1
MYH2, MYHAS 1 1
MYH6 1 1
MYL10 1 1
MYO1E 1 1
MYO3A 1 1
MYO3B 1 1
MYOM1 1 1
MYOT, PKD2L2-DT 1 1
MYPN 1 1
NACC1 1 1
NADK2 1 1
NAGLU 1 1
NANS, TRIM14 1 1
NBAS 1 1
NCF2 1 1
NCF4 1 1
NCKAP1 1 1
NCOA4 1 1
NDP 1 1
NDUFA12 1 1
NDUFAF5 1 1
NDUFAF7 1 1
NDUFB1 1 1
NDUFS1 1 1
NDUFS4 1 1
NDUFV1 1 1
NECTIN4 1 1
NEFH 1 1
NEXMIF 1 1
NFATC1 1 1
NFIA 1 1
NFIX 1 1
NFKB1 1 1
NFKB2 1 1
NFKBIA 1 1
NGF 1 1
NIPBL 1 1
NKAIN2 1 1
NLGN4X 1 1
NME8 1 1
NMI 1 1
NODAL 1 1
NOS1 1 1
NOTCH3 1 1
NOXA1 1 1
NPC1 1 1
NPR2 1 1
NR3C1 1 1
NR4A2 1 1
NRAS 1 1
NRL, PCK2 1 1
NRN1L 1 1
NRXN2 1 1
NRXN3 1 1
NSD2 1 1
NSUN2 1 1
NTHL1, TSC2 1 1
NTRK1 1 1
NUBPL 1 1
NUP188 1 1
NUS1, SLC35F1 1 1
OPA3 1 1
OR6K2 1 1
ORC1 1 1
OXA1L 1 1
P2RX7 1 1
P3H1 1 1
PACS1 1 1
PAFAH1B1 1 1
PAH 1 1
PAK1 1 1
PALS2 1 1
PANK2 1 1
PAX2 1 1
PAX4 1 1
PAX5 1 1
PBX1 1 1
PCCB 1 1
PCDH12 1 1
PCDH19 1 1
PCDHB16, PCDHB@ 1 1
PCNT 1 1
PDLIM3 1 1
PDX1 1 1
PEPD 1 1
PEX1 1 1
PEX16 1 1
PGK1 1 1
PGM1 1 1
PHEX 1 1
PHF6 1 1
PHF8 1 1
PHKA2 1 1
PIK3R2 1 1
PITRM1 1 1
PKD2 1 1
PKP2 1 1
PLEKHG5 1 1
PLOD3 1 1
PLXNB3 1 1
PMM2 1 1
PMP22 1 1
PNKP 1 1
PNPLA4, PUDP, STS, VCX, VCX2 1 1
PNPO 1 1
POGLUT1 1 1
POGZ 1 1
POLR2F, SOX10 1 1
POLR3B 1 1
POU1F1 1 1
PPA2 1 1
PPOX 1 1
PPP2R1A 1 1
PPP2R2B 1 1
PPP2R5D 1 1
PRB2 1 1
PRCP 1 1
PRDM16 1 1
PRDM5 1 1
PREX2 1 1
PRICKLE1 1 1
PRKDC 1 1
PRKN 1 1
PROC 1 1
PROM1 1 1
PRPH2 1 1
PRR16 1 1
PRSS12 1 1
PRSS2, TRB 1 1
PRSS33 1 1
PRUNE2 1 1
PRX 1 1
PSMB8 1 1
PSMD12 1 1
PTPN23 1 1
PTRH2 1 1
PUM1 1 1
PYCR1 1 1
QARS1 1 1
QRFPR 1 1
RAB11FIP5 1 1
RAB39B 1 1
RAB3IP 1 1
RACK1 1 1
RAD50 1 1
RAF1 1 1
RAG1 1 1
RAI1 1 1
RAPSN 1 1
RASA1 1 1
RBFOX1 1 1
REEP2 1 1
RELA 1 1
RELB 1 1
RELN 1 1
RFXANK 1 1
RGPD4 1 1
RHAG 1 1
RHBDF2 1 1
RHO 1 1
RHOBTB2 1 1
RHOT1 1 1
RINT1 1 1
RIPK1 1 1
RMND1 1 1
ROR2 1 1
RORA 1 1
RPL26 1 1
RPS23 1 1
RPS6KA3 1 1
RRP15, SPATA17, TGFB2 1 1
RSPH4A 1 1
RTEL1 1 1
RTTN 1 1
RUNX1 1 1
SAMD9 1 1
SAMD9L 1 1
SARS2 1 1
SASH3 1 1
SATB2 1 1
SBF1 1 1
SCAMP5 1 1
SCARB2 1 1
SCN10A 1 1
SCN2B 1 1
SCN9A 1 1
SCO1 1 1
SCP2 1 1
SDHB 1 1
SDHD 1 1
SDK1 1 1
SDSL 1 1
SEPTIN7 1 1
SEPTIN9 1 1
SERAC1 1 1
SERPINA1 1 1
SETD1B 1 1
SETD2 1 1
SHANK1 1 1
SHOC2 1 1
SIAE 1 1
SIM1 1 1
SIRT5 1 1
SIX5 1 1
SLC12A3 1 1
SLC12A6 1 1
SLC17A5 1 1
SLC19A2 1 1
SLC1A2 1 1
SLC22A5 1 1
SLC25A12 1 1
SLC25A23 1 1
SLC25A24 1 1
SLC25A38 1 1
SLC25A46 1 1
SLC27A4 1 1
SLC2A10 1 1
SLC37A4 1 1
SLC6A2 1 1
SLC6A8 1 1
SLITRK2 1 1
SLX4 1 1
SMAD6 1 1
SMARCA2 1 1
SMARCAL1 1 1
SMARCE1 1 1
SMCHD1 1 1
SMOC1 1 1
SMS 1 1
SNAP25 1 1
SNCA 1 1
SNED1 1 1
SNHG14, UBE3A 1 1
SNX27 1 1
SOD1 1 1
SOD1, SOD1-DT 1 1
SOS2 1 1
SP7 1 1
SPEN 1 1
SPG11 1 1
SPI1 1 1
SPINK1 1 1
SPTA1 1 1
SPTB 1 1
SPTLC2 1 1
SRD5A2 1 1
SRPK3 1 1
SRSF7 1 1
SSH3 1 1
STAG1 1 1
STIM1 1 1
STRA6 1 1
STRADA 1 1
STT3A 1 1
STT3B 1 1
STX11 1 1
STX1B 1 1
SUCLA2 1 1
SUCLG2 1 1
SUGCT 1 1
SURF1 1 1
SYT12 1 1
SYT2 1 1
SYT4 1 1
TAF1 1 1
TALDO1 1 1
TANGO2 1 1
TAOK1 1 1
TAPBP 1 1
TBK1 1 1
TBL1XR1 1 1
TCAP 1 1
TCIRG1 1 1
TCOF1 1 1
TCTN1 1 1
TEK 1 1
TENM1 1 1
TFG 1 1
TG 1 1
TH 1 1
THAP1 1 1
TIA1 1 1
TICAM1 1 1
TIMM44 1 1
TINF2 1 1
TJP2 1 1
TK2 1 1
TKT 1 1
TLR3 1 1
TLR7 1 1
TMC1 1 1
TMC6 1 1
TMC6, TMC8 1 1
TMC8 1 1
TMEM126B 1 1
TMPRSS3 1 1
TOPORS 1 1
TPM3 1 1
TPO 1 1
TRAF7 1 1
TRAPPC9 1 1
TRIM4 1 1
TRIML1, TRIML2, ZFP42 1 1
TRMU 1 1
TRPM3 1 1
TRPS1 1 1
TSC1 1 1
TSPEAR 1 1
TTC21B 1 1
TTC7A 1 1
TTLL5 1 1
TUBB2A 1 1
TUBB2B 1 1
TUBB4A 1 1
TUBB4B 1 1
UBA2 1 1
UBE2A 1 1
UBR3 1 1
UGT1A, UGT1A10, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 1
UMOD 1 1
UNC93B1 1 1
UPF3B 1 1
UQCRB 1 1
USP1 1 1
USP45 1 1
USP50, USP8 1 1
VCL 1 1
VRK1 1 1
WASF1 1 1
WDFY4 1 1
WDR37 1 1
WIPF1 1 1
WRN 1 1
WWOX 1 1
XIAP 1 1
XPC 1 1
YARS2 1 1
YWHAZ 1 1
ZC4H2 1 1
ZIC3 1 1
ZIC5 1 1
ZMYM2 1 1
ZMYND11 1 1
ZNF227 1 1
ZNF292 1 1
ZNF711 1 1
ZNF814 1 1
ZNF844 1 1

Condition and significance breakdown #

Total conditions: 1288
Download table as spreadsheet
Condition not provided total
not provided 995 995
Ehlers-Danlos syndrome, classic type 15 15
Lynch syndrome 10 10
Congenital contractural arachnodactyly 9 9
Brittle cornea syndrome 1 8 8
Neurofibromatosis, type 1 8 8
Ehlers-Danlos syndrome due to tenascin-X deficiency 7 7
Ehlers-Danlos syndrome, type 4 7 7
Wilson disease 7 7
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 6 6
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 6 6
Cystic fibrosis 6 6
Merosin deficient congenital muscular dystrophy 6 6
POLG-related disorder 6 6
RYR1-related disorder 6 6
USH2A-related disorder 6 6
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 6 6
Autosomal recessive polycystic kidney disease 5 5
Developmental and epileptic encephalopathy, 1 5 5
Developmental and epileptic encephalopathy, 18 5 5
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 5 5
Familial thoracic aortic aneurysm and aortic dissection 5 5
Glycogen storage disease, type II 5 5
Hereditary breast ovarian cancer syndrome 5 5
SCN2A-related disorder 5 5
TTN-related disorder 5 5
Autosomal recessive nonsyndromic hearing loss 3 4 4
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 4 4
BRCA2-related disorder 4 4
Breast-ovarian cancer, familial, susceptibility to, 2 4 4
Cardiac arrhythmia, ankyrin-B-related 4 4
Catecholaminergic polymorphic ventricular tachycardia 1 4 4
Chromosome 16p11.2 duplication syndrome 4 4
Cohen syndrome 4 4
Ehlers-Danlos syndrome, dermatosparaxis type 4 4
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1 4 4
FOXG1 disorder 4 4
Familial adenomatous polyposis 1 4 4
Familial adenomatous polyposis 3 4 4
Familial cancer of breast 4 4
Fanconi anemia complementation group D1; Hereditary breast ovarian cancer syndrome 4 4
Kabuki syndrome 1 4 4
Leigh syndrome 4 4
Lynch syndrome 5 4 4
Marfan syndrome 4 4
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 4 4
Mitochondrial complex I deficiency 4 4
Nemaline myopathy 2 4 4
Stargardt disease 4 4
8q24.3 microdeletion syndrome 3 3
APC-Associated Polyposis Disorders 3 3
Alstrom syndrome 3 3
Aortic aneurysm, familial thoracic 10 3 3
Aortic aneurysm, familial thoracic 7 3 3
Aortic valve disease 1; Adams-Oliver syndrome 5 3 3
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 3 3
Autosomal recessive inherited pseudoxanthoma elasticum 3 3
Autosomal recessive nonsyndromic hearing loss 84B 3 3
Biotinidase deficiency 3 3
Birt-Hogg-Dube syndrome 3 3
Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 3 3
COL1A2-related disorder 3 3
Cardiomyopathy 3 3
Charcot-Marie-Tooth disease axonal type 2P 3 3
Charlevoix-Saguenay spastic ataxia 3 3
Combined immunodeficiency due to DOCK8 deficiency 3 3
Complex neurodevelopmental disorder 3 3
Congenital myasthenic syndrome 8 3 3
Cortical dysplasia-focal epilepsy syndrome 3 3
Deficiency of butyryl-CoA dehydrogenase 3 3
Deficiency of butyrylcholinesterase 3 3
Deficiency of steroid 17-alpha-monooxygenase 3 3
Dermatitis, atopic, 2; Ichthyosis vulgaris 3 3
Developmental and epileptic encephalopathy 94 3 3
Donnai-Barrow syndrome 3 3
Early onset epileptic encephalopathy 3 3
Ehlers-Danlos syndrome progeroid type 3 3
Ehlers-Danlos syndrome, classic type, 1 3 3
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1 3 3
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 3 3
Fabry disease 3 3
Familial Mediterranean fever 3 3
Familial colorectal cancer 3 3
Fanconi anemia complementation group A 3 3
Glycogen storage disease, type V 3 3
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 3 3
Hearing loss 3 3
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; Combined oxidative phosphorylation deficiency 39 3 3
Hereditary diffuse gastric adenocarcinoma 3 3
Hereditary spastic paraplegia 4 3 3
Hereditary spastic paraplegia 7 3 3
Hypertrophic cardiomyopathy 3 3
Intellectual disability, X-linked syndromic, Turner type 3 3
KBG syndrome 3 3
LAMA2-related muscular dystrophy 3 3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 3
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 3 3
Long QT syndrome 3 3
Mitochondrial DNA-related disorder 3 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 3 3
Nail-patella syndrome 3 3
Neurodevelopmental disorder 3 3
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 3 3
Oligodontia-cancer predisposition syndrome 3 3
PIGT-related disorder 3 3
SCN5A-related disorder 3 3
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 3 3
Succinate-semialdehyde dehydrogenase deficiency 3 3
Syndromic X-linked intellectual disability Claes-Jensen type 3 3
TBL1XR1-related disorder 3 3
TRRAP-related disorder 3 3
Tatton-Brown-Rahman overgrowth syndrome 3 3
Tibial muscular dystrophy 3 3
Ververi-Brady syndrome 3 3
3-Methylglutaconic aciduria type 3; Optic atrophy 3 2 2
ACO2-related disorder 2 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2 2
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 2 2
ATRX-related disorder 2 2
Acromelic frontonasal dysostosis 2 2
Acute intermittent porphyria 2 2
Alpha thalassemia-X-linked intellectual disability syndrome 2 2
Amyloidosis, hereditary systemic 1 2 2
Amyotrophic lateral sclerosis type 1 2 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2 2
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2 2
Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome; Wolfram syndrome; WFS1-Related Spectrum Disorders 2 2
Autosomal dominant optic atrophy classic form 2 2
Autosomal recessive ataxia due to ubiquinone deficiency 2 2
Autosomal recessive ataxia, Beauce type 2 2
Autosomal recessive congenital ichthyosis 3 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 2
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D 2 2
Autosomal recessive nonsyndromic hearing loss 16 2 2
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 2 2
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2 2
Autosomal recessive nonsyndromic hearing loss 77 2 2
Autosomal recessive spinocerebellar ataxia 20 2 2
BAP1-related tumor predisposition syndrome 2 2
Becker muscular dystrophy; Duchenne muscular dystrophy 2 2
Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 2
Brachydactyly 2 2
Breast-ovarian cancer, familial, susceptibility to, 3 2 2
Breast-ovarian cancer, familial, susceptibility to, 4 2 2
Bronze diabetes 2 2
Brugada syndrome 2 2
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME 2 2
C1Q deficiency 2 2
CACNA1A-related disorder 2 2
CASK-related disorder 2 2
CHD2-related disorder 2 2
CHD3-related disorder 2 2
CHD8-related disorder 2 2
CNOT1-related disorder 2 2
COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2 2
COL12A1-related disorder 2 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia 2 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2 2
Cerebellar ataxia-hypogonadism syndrome; Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2 2
Charcot-Marie-Tooth disease axonal type 2L 2 2
Cholestanol storage disease 2 2
Chromosome 15q11.2 deletion syndrome 2 2
Chromosome 1q21.1 deletion syndrome 2 2
Chromosome 2q23.1 deletion syndrome 2 2
Coffin-Siris syndrome 1 2 2
Collagen 6-related myopathy 2 2
Combined oxidative phosphorylation defect type 23 2 2
Combined oxidative phosphorylation defect type 8 2 2
Complex cortical dysplasia with other brain malformations 6 2 2
Congenital disorder of glycosylation type Ir 2 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2 2
Congenital muscular dystrophy due to integrin alpha-7 deficiency 2 2
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2 2
DCHS1-related disorder 2 2
DCTN1-related disorder 2 2
DDX3X-related disorder 2 2
DEPDC5-related disorder 2 2
DICER1-related tumor predisposition 2 2
DYNC2H1-related disorder 2 2
DYSF-related disorder 2 2
Deafness 2 2
Developmental and epileptic encephalopathy 92 2 2
Developmental and epileptic encephalopathy, 35 2 2
Developmental delay with autism spectrum disorder and gait instability 2 2
Dilated cardiomyopathy 1G 2 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 2 2
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy 2 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2 2
ELP2-related disorder 2 2
EMC1-related disorder 2 2
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2 2
Epidermolysis bullosa dystrophica 2 2
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 2 2
Epilepsy 2 2
Epilepsy with myoclonic atonic seizures 2 2
Epilepsy, childhood absence, susceptibility to, 6 2 2
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2 2
Episodic ataxia type 1 2 2
FBN1-related disorder 2 2
FLNA-related disorder 2 2
Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach; APC-related attenuated familial adenomatous polyposis 2 2
Familial adenomatous polyposis 2 2 2
Familial hypercholesterolemia 2 2
Fanconi anemia complementation group N; Hereditary cancer-predisposing syndrome 2 2
GATAD2B-related disorder 2 2
GPT2-related neurodevelopmental disorder 2 2
GRIN1-related disorder 2 2
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2 2
Glycogen storage disease type III 2 2
Glycogen storage disease, type IV 2 2
Glycogen storage disease, type VII 2 2
Gnb5-related intellectual disability-cardiac arrhythmia syndrome; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 2 2
Growth delay due to insulin-like growth factor I resistance 2 2
HPRT1-related disorder 2 2
HUWE1-related disorder 2 2
Hereditary leiomyomatosis and renal cell cancer 2 2
Hereditary nonpolyposis colon cancer 2 2
Hereditary spastic paraplegia 11 2 2
Hereditary spastic paraplegia 49 2 2
Heterotopia, periventricular, X-linked dominant 2 2
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A 2 2
Hypercholesterolemia, familial, 1 2 2
Hyperinsulinemic hypoglycemia, familial, 1 2 2
Hypertrophic cardiomyopathy 4 2 2
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 2 2
Hypogonadotropic hypogonadism 7 with or without anosmia 2 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 2 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 2 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 2
Ichthyosis vulgaris 2 2
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2 2
Intellectual developmental disorder with autistic features and language delay, with or without seizures 2 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 2 2
Intellectual developmental disorder, autosomal recessive 70 2 2
Intellectual disability 2 2
Intellectual disability, X-linked 102 2 2
Intellectual disability, autosomal dominant 57 2 2
Intellectual disability, autosomal dominant 6 2 2
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2 2
Juvenile myoclonic epilepsy; Intellectual disability 2 2
Kufor-Rakeb syndrome 2 2
LAMA2-related muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2 2
LOX-related disorder 2 2
Leber optic atrophy 2 2
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 2 2
Long QT syndrome 11 2 2
Long QT syndrome 2 2 2
MARS-related disorder 2 2
MED12-related intellectual disability syndrome 2 2
MED13L-related disorder 2 2
MEF2C-related disorder 2 2
MHC class I deficiency 2 2
MYH7-related disorder 2 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2 2
Majeed syndrome 2 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 2
Metachromatic leukodystrophy 2 2
Methylmalonic aciduria and homocystinuria type cblF 2 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 2 2
Microcephaly 3, primary, autosomal recessive 2 2
Microcephaly 5, primary, autosomal recessive 2 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2 2
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 2 2
Mitochondrial complex IV deficiency, nuclear type 1; Infantile encephalopathy 2 2
Mitochondrial disease 2 2
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2 2
Mucopolysaccharidosis type 7 2 2
Multiple endocrine neoplasia, type 1 2 2
Muscle AMP deaminase deficiency 2 2
Muscular dystrophy 2 2
Myeloperoxidase deficiency 2 2
Myopathy, centronuclear, 5 2 2
Myopathy, myofibrillar, 9, with early respiratory failure 2 2
NT5E-related disorder 2 2
Nebulin-related early-onset distal myopathy 2 2
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2 2
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 2 2
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 2 2
Neuronal ceroid lipofuscinosis 1 2 2
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2 2
Occult macular dystrophy; Retinitis pigmentosa 88 2 2
Osteogenesis imperfecta 2 2
Ovarian hyperstimulation syndrome; Ovarian dysgenesis 1 2 2
PHIP-related disorder 2 2
PIGL-related disorder 2 2
Phenylketonuria 2 2
Pitt-Hopkins syndrome 2 2
Polycystic kidney disease 2 2 2
Polycystic kidney disease, adult type 2 2
Polyglandular autoimmune syndrome, type 1 2 2
Primary coenzyme Q10 deficiency 8 2 2
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2 2
Primary hypomagnesemia 2 2
Primrose syndrome 2 2
Pyruvate carboxylase deficiency 2 2
Pyruvate dehydrogenase E3-binding protein deficiency 2 2
RASopathy 2 2
RPE65-related disorder 2 2
RTEL1-related disorder 2 2
Retinitis pigmentosa 2 2
Retinitis pigmentosa 40 2 2
Retinoblastoma 2 2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 2 2
SCNN1B-related disorder 2 2
SHANK3-related disorder 2 2
SPATA5-related disorder 2 2
SPATA5L1-related disorder 2 2
Seckel syndrome 2 2
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2 2
Severe early-childhood-onset retinal dystrophy 2 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 2
Short stature-brachydactyly-obesity-global developmental delay syndrome 2 2
Sjögren-Larsson syndrome 2 2
Smith-Lemli-Opitz syndrome 2 2
Smith-Magenis syndrome 2 2
Syndromic intellectual disability 2 2
Tyrosinase-positive oculocutaneous albinism 2 2
UNC80-related disorder 2 2
Usher syndrome 2 2
Vanishing white matter disease 2 2
Warsaw breakage syndrome 2 2
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome 2 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 2 2
X-linked syndromic intellectual disability 2 2
10p15.3 microdeletion syndrome 1 1
11q partial monosomy syndrome 1 1
16p13.11 microdeletion syndrome 1 1
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q 1 1
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 1
2q23.1 microdeletion syndrome 1 1
2q24 microdeletion syndrome 1 1
3-Methylglutaconic aciduria type 3 1 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 1
3-methylcrotonyl-CoA carboxylase 1 deficiency 1 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 1
4p partial monosomy syndrome 1 1
ABCB4-related disorder 1 1
ABCD syndrome; Hirschsprung disease, susceptibility to, 2; Waardenburg syndrome type 4A 1 1
ABL1-related disorder 1 1
ACTG2-related disorder 1 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 1
ADPRHL2-related disorder 1 1
AFF4-related disorder 1 1
AKT3-related disorder 1 1
ALG2-congenital disorder of glycosylation 1 1
ANO5-Related Muscle Diseases 1 1
ANO5-related disorder 1 1
AP4S1-related disorder 1 1
APS41-related disorder 1 1
ASH1L-related disorder 1 1
AXIN2-related attenuated familial adenomatous polyposis 1 1
Abnormality of the pancreas 1 1
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type 1 1
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type 1 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Hypochondroplasia 1 1
Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3 1 1
Acromesomelic dysplasia 1, Maroteaux type 1 1
Actin accumulation myopathy 1 1
Action myoclonus-renal failure syndrome 1 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1 1
Acute lymphoid leukemia; Hereditary cancer-predisposing syndrome 1 1
Acute myeloid leukemia 1 1
Adams-Oliver syndrome 2 1 1
Adams-Oliver syndrome; Congenital heart anomalies 1 1
Age related macular degeneration 1; Autosomal recessive cutis laxa type 1 1 1
Agenesis of the corpus callosum with peripheral neuropathy 1 1
Alexander disease 1 1
Alpha-1-antitrypsin deficiency 1 1
Alpha-thalassemia and related diseases 1 1
Amyotrophic lateral sclerosis type 21 1 1
Amyotrophic neuralgia 1 1
Andersen Tawil syndrome; Short QT syndrome type 1; Atrial fibrillation, familial, 1 1 1
Aneurysm-osteoarthritis syndrome 1 1
Angelman syndrome 1 1
Anterior segment dysgenesis 1; Congenital primary aphakia; Familial thoracic aortic aneurysm and aortic dissection 1 1
Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta 1 1
Aortic aneurysm, familial thoracic 4; Familial thoracic aortic aneurysm and aortic dissection 1 1
Aortic aneurysm, familial thoracic 6; Congenital aneurysm of ascending aorta; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Moyamoya disease 1 1
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 1 1
Aortic aneurysm, familial thoracic 8 1 1
Aortic aneurysm, familial thoracic, TGFB2 related 1 1
Aortic valve disease 2; Craniosynostosis 7; Radioulnar synostosis, nonsyndromic, susceptibility to 1 1
Arginase deficiency 1 1
Aromatase excess syndrome; Aromatase deficiency 1 1
Arrhythmogenic right ventricular dysplasia 10 1 1
Arterial tortuosity syndrome 1 1
Arthrogryposis, distal, type 1B; Myopathy, congenital, with tremor 1 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 1 1
Ataxia-pancytopenia syndrome 1 1
Ataxia-telangiectasia syndrome; Hereditary cancer 1 1
Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome 1 1
Ataxia-telangiectasia syndrome; Malignant tumor of breast 1 1
Ataxia-telangiectasia-like disorder 1 1 1
Attenuated familial adenomatous polyposis; Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach 1 1
Autism spectrum disorder 1 1
Autism spectrum disorder; Epilepsy with myoclonic atonic seizures 1 1
Autoinflammation, immune dysregulation, and eosinophilia; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency 1 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 1 1
Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 1 1
Autosomal dominant familial acute myeloid leukemia 1 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 1 1
Autosomal dominant nocturnal frontal lobe epilepsy 5; Malignant migrating partial seizures of infancy 1 1
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 1 1
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 1 1
Autosomal dominant nonsyndromic hearing loss 2A 1 1
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 1 1
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 1 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis; Familial adenomatous polyposis 3; TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 1 1
Autosomal dominant retinitis pigmentosa 1 1
Autosomal recessive Alport syndrome; Alport syndrome 1 1
Autosomal recessive DOPA responsive dystonia 1 1
Autosomal recessive cutis laxa type 2B 1 1
Autosomal recessive juvenile Parkinson disease 2 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Miyoshi myopathy 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2L; ANO5-Related Muscle Diseases 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 1
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 1 1
Autosomal recessive nonsyndromic hearing loss 18B 1 1
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 1 1
Autosomal recessive nonsyndromic hearing loss 28 1 1
Autosomal recessive nonsyndromic hearing loss 30 1 1
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 1 1
Autosomal recessive nonsyndromic hearing loss 98 1 1
Autosomal recessive osteopetrosis 1 1 1
Autosomal recessive spinocerebellar ataxia 12 1 1
Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 1 1
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type 1 1
BCAP31-related disorder 1 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 1
BRWD3-related disorder 1 1
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 1 1
Bardet-Biedl syndrome 1 1
Bardet-Biedl syndrome 1 1 1
Bardet-Biedl syndrome 22 1 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 1 1
Benign neonatal seizures; Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Early Infantile Epileptic Encephalopathy, Autosomal Recessive 1 1
Bernard Soulier syndrome 1 1
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease 1 1
Beta-D-mannosidosis 1 1
Bethlem myopathy 1 1
Bethlem myopathy 1A 1 1
Bethlem myopathy 1A; Dystonia 27 1 1
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy 1 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 1
Blau syndrome 1 1
Blau syndrome; Crohn disease 1 1
Blau syndrome; Inflammatory bowel disease 1 1 1
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Vitamin K-dependent clotting factors, combined deficiency of, type 1 1 1
Borjeson-Forssman-Lehmann syndrome 1 1
Brachydactyly syndrome type E 1 1
Brachydactyly type B1 1 1
Branchiootorenal syndrome 1 1 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 1
Breast-ovarian cancer, familial, susceptibility to, 1; Carcinoma of pancreas; Hereditary breast ovarian cancer syndrome; Fanconi anemia, complementation group S 1 1
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 1 1
Brittle cornea syndrome 1 1
Brittle cornea syndrome 2 1 1
Brody myopathy 1 1
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 1 1
Brugada syndrome 1; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome 1 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 1 1
CACNA1C-related disorder 1 1
CACNA1D-related disorder 1 1
CACNA1G-related disorder 1 1
CACNA1H-related disorder 1 1
CDH1-related diffuse gastric and lobular breast cancer syndrome 1 1
CEP290-related ciliopathies 1 1
CFTR-related disorder 1 1
CHARGE syndrome 1 1
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 1 1
CHEK2-related cancer predisposition 1 1
CLCN4-related disorder 1 1
CLTC-related disorder 1 1
COG4-congenital disorder of glycosylation 1 1
COG6-congenital disorder of glycosylation 1 1
COL11A1-related disorder 1 1
COL11A2-related disorder 1 1
COL2A1-related disorder 1 1
COL2A1-related skeletal dysplasia 1 1
COL3A1-related disorder 1 1
COL4A1-related disorder 1 1
COL4A3BP-related disorder 1 1
COL6A1-related disorder 1 1
CR2-related disorder 1 1
CSNK2A1-related disorder 1 1
CSNK2B-related disorder 1 1
CTCF-related disorder 1 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 1 1
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Oto-palato-digital syndrome, type I 1 1
Cardiomyopathy, familial hypertrophic 27 1 1
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 1 1
Carney complex 1 1
Carnitine palmitoyl transferase II deficiency, neonatal form 1 1
Carnitine palmitoyltransferase II deficiency 1 1
Cataract 5 multiple types 1 1
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 1 1
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; Autosomal dominant centronuclear myopathy 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 1 1
Central core myopathy; Myopathy, distal, 6, adult-onset, autosomal dominant 1 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 1
Cerebral cavernous malformation 3 1 1
Charcot-Marie-Tooth disease 1 1
Charcot-Marie-Tooth disease axonal type 2C 1 1
Charcot-Marie-Tooth disease axonal type 2N 1 1
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 1 1
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13; Spinal muscular atrophy with lower extremity predominance 1 1
Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance 1 1
Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 1 1
Charcot-Marie-Tooth disease axonal type 2U 1 1
Charcot-Marie-Tooth disease axonal type 2Z 1 1
Charcot-Marie-Tooth disease type 1B 1 1
Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease axonal type 2T; MME-related autosomal dominant Charcot Marie Tooth disease type 2 1 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 1
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 1
Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A 1 1
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1 1
Charcot-Marie-Tooth disease type 4B2 1 1
Charcot-Marie-Tooth disease type 4B3 1 1
Charcot-Marie-Tooth disease type 4F 1 1
Childhood onset GLUT1 deficiency syndrome 2 1 1
Choroideremia 1 1
Chromosome 15q13.3 microdeletion syndrome 1 1
Chromosome 17p13.3 duplication syndrome 1 1
Chromosome 17q12 duplication syndrome 1 1
Chromosome 2p25.3 deletion syndrome 1 1
Chromosome 9p deletion syndrome 1 1
Chromosome Xp21 deletion syndrome 1 1
Chromosome Xq28 duplication syndrome 1 1
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 1 1
Chédiak-Higashi syndrome 1 1
Citrullinemia type I 1 1
Classic or attenuated familial adenomatous polyposis 1 1
Cobalamin C disease 1 1
Coffin-Lowry syndrome 1 1
Coffin-Siris syndrome 1 1
Coffin-Siris syndrome 6 1 1
Coffin-Siris syndrome; Small cell carcinoma of the ovary, hypercalcemic type 1 1
Colorectal cancer, hereditary nonpolyposis, type 2 1 1
Colorectal cancer, susceptibility to, 10 1 1
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome 1 1
Colorectal cancer, susceptibility to, 12 1 1
Colorectal cancer, susceptibility to, 12; Polymerase proofreading-related adenomatous polyposis 1 1
Combined immunodeficiency due to LRBA deficiency 1 1
Combined oxidative phosphorylation defect type 11 1 1
Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 1 1
Combined oxidative phosphorylation defect type 15 1 1
Combined oxidative phosphorylation defect type 20 1 1
Combined oxidative phosphorylation defect type 24 1 1
Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94 1 1
Combined oxidative phosphorylation defect type 27 1 1
Combined oxidative phosphorylation defect type 7 1 1
Combined oxidative phosphorylation defect type 9 1 1
Complex cortical dysplasia with other brain malformations 2 1 1
Complex cortical dysplasia with other brain malformations 7; Complex cortical dysplasia with other brain malformations 1 1 1
Cone-rod dystrophy 19 1 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 1 1
Congenital aneurysm of ascending aorta 1 1
Congenital aneurysm of ascending aorta; Loeys-Dietz syndrome 1 1
Congenital aniridia 1 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 1 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 1 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 1 1
Congenital diarrhea 6; Meconium ileus 1 1
Congenital disorder of glycosylation, type iit 1 1
Congenital factor V deficiency 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1
Congenital hyperammonemia, type I 1 1
Congenital hypothyroidism 1 1
Congenital myasthenic syndrome 1 1
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 1 1
Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 1 1
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 1 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form; Myotonia levior 1 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 1 1
Congenital stationary night blindness 1 1
Congenital stationary night blindness 1E 1 1
Congenital stationary night blindness 1F 1 1
Cornelia de Lange syndrome 1 1 1
Coronary artery disorder 1 1
Corticosterone methyloxidase type 2 deficiency 1 1
Creatine transporter deficiency 1 1
Cutis Laxa Syndrome 1 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 1 1
Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2 1 1
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 1 1
DIABLO-Related Hearing Loss 1 1
DLG3-related disorder 1 1
DMD-related disorder 1 1
DNMT1-related disorder 1 1
DNMT3A-related disorder 1 1
DOCK2 deficiency 1 1
DOORS syndrome; Familial infantile myoclonic epilepsy; Malignant migrating partial seizures of infancy 1 1
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 1 1
DSPP-related disorder 1 1
DYNC1H1-related disorder 1 1
DYRK1A-related intellectual disability syndrome 1 1
Danon disease 1 1
Deficiency of iodide peroxidase 1 1
Deficiency of isobutyryl-CoA dehydrogenase 1 1
Deficiency of malonyl-CoA decarboxylase 1 1
Deficiency of transaldolase 1 1
Desmin-related myofibrillar myopathy 1 1
Desmoid disease, hereditary; Familial adenomatous polyposis 1 1 1
Developmental Disorder With Language Delay And Congenital Abnormalities 1 1
Developmental and epileptic encephalopathy 1 1
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 1
Developmental and epileptic encephalopathy, 1; Congenital disorder of glycosylation 1 1
Developmental and epileptic encephalopathy, 2 1 1
Developmental and epileptic encephalopathy, 32 1 1
Developmental and epileptic encephalopathy, 33 1 1
Developmental and epileptic encephalopathy, 39 1 1
Developmental and epileptic encephalopathy, 41 1 1
Developmental and epileptic encephalopathy, 43 1 1
Developmental and epileptic encephalopathy, 54 1 1
Developmental and epileptic encephalopathy, 64 1 1
Developmental and epileptic encephalopathy, 69 1 1
Developmental and epileptic encephalopathy, 9 1 1
Developmental delay with or without dysmorphic facies and autism 1 1
Dextro-looped transposition of the great arteries 1 1
Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 1 1
Diamond-Blackfan anemia 11 1 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 1 1
Dihydropyrimidine dehydrogenase deficiency 1 1
Dilated cardiomyopathy 1A 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 1
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 1
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 1 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 1 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1 1
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 1 1
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 1 1
Distal hereditary motor neuropathy type 2 1 1
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 1 1
Duane syndrome type 1 1 1
Duchenne muscular dystrophy 1 1
Dyskeratosis congenita, autosomal recessive 6 1 1
Dystonia 28, childhood-onset 1 1
Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 1 1
Dystonia, primary cervical 1 1
EAST syndrome 1 1
EEF2-related disorder 1 1
EGFR-related lung cancer; Inflammatory skin and bowel disease, neonatal, 2 1 1
EMILIN-1-related connective tissue disease 1 1
EZH2-related disorder 1 1
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 1 1
Ectodermal dysplasia-syndactyly syndrome 1 1 1
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Familial thoracic aortic aneurysm and aortic dissection 1 1
Ectopia lentis 2, isolated, autosomal recessive 1 1
Ehlers-Danlos syndrome 1 1
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 1 1
Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 1 1
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 1 1
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 1 1
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, arthrochalasia type, 2 1 1
Ehlers-Danlos syndrome, classic type, 2 1 1
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type 1 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 1 1
Ehlers-Danlos syndrome, musculocontractural type 1 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 1 1
Ehlers-Danlos syndrome, type 3 1 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 1 1
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 1 1
Elliptocytosis 1 1 1
Elliptocytosis 2 1 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 1
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 1 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 1
Epilepsy, familial adult myoclonic, 2 1 1
Epilepsy, familial focal, with variable foci 1 1 1
Epilepsy, focal, SCN3A related; Developmental and epileptic encephalopathy, 62 1 1
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 1 1
Epiphyseal dysplasia, multiple, 3; Stickler syndrome, type 6 1 1
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome 1 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Lennox-Gastaut syndrome; CACNA1A-related complex neurodevelopmental disorder 1 1
Epsilon-trimethyllysine hydroxylase deficiency 1 1
Essential hypertension 1 1
Ethylmalonic encephalopathy 1 1
Exostoses, multiple, type 2 1 1
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis 1 1
FASLG-Related Autoimmune Lymphoproliferative Syndrome 1 1
FKRP-related disorder 1 1
FLG-related disorder 1 1
FLNB-related disorder 1 1
FOXP2-related disorder 1 1
Facioscapulohumeral muscular dystrophy 2 1 1
Familial adenomatous polyposis 4 1 1
Familial cancer of breast; Ataxia-telangiectasia syndrome 1 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Glioma susceptibility 3; Familial prostate cancer 1 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Prostate cancer; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1 1 1
Familial cancer of breast; CHEK2-related cancer predisposition; Prostate cancer; Colorectal cancer 1 1
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma 1 1
Familial cancer of breast; Prostate cancer susceptibility; Lymphoma 1 1
Familial cardiomyopathy 1 1
Familial cold autoinflammatory syndrome 2 1 1
Familial exudative vitreoretinopathy 1 1
Familial hemophagocytic lymphohistiocytosis 1 1
Familial hypokalemia-hypomagnesemia 1 1
Familial infantile myasthenia 1 1
Familial juvenile hyperuricemic nephropathy type 1 1 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 1
Familial ovarian cancer 1 1
Familial sleep-related hypermotor epilepsy 1 1
Familial temporal lobe epilepsy 2; Familial sleep-related hypermotor epilepsy; Familial focal epilepsy with variable foci 1 1
Familial thoracic aortic aneurysm and aortic dissection; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 1 1
Fanconi anemia complementation group C 1 1
Fanconi anemia complementation group E 1 1
Fanconi anemia complementation group P 1 1
Fanconi anemia, complementation group M 1 1
Fanconi anemia; Hereditary cancer 1 1
Faundes-Banka syndrome 1 1
Febrile seizure (within the age range of 3 months to 6 years); Generalized epilepsy 1 1
Fibrous dysplasia of jaw 1 1
Focal segmental glomerulosclerosis 6 1 1
Focal segmental glomerulosclerosis 8 1 1
Fragile site 11b; CBL-related disorder 1 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 1 1
Fructose-biphosphatase deficiency 1 1
Fundus albipunctatus, autosomal recessive 1 1
G6PD deficiency 1 1
GABRA6-related disorder 1 1
GABRG2-related disorder 1 1
GLUT1 deficiency syndrome 1 1
GNB1-related disorder 1 1
GNE myopathy 1 1
GRIA3-related disorder 1 1
GRIN2B-related disorder 1 1
GRIN2D-related disorder 1 1
Galactosylceramide beta-galactosidase deficiency 1 1
Gamma-aminobutyric acid transaminase deficiency 1 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Cowden syndrome 1 1 1
Gaucher disease 1 1
Generalized juvenile polyposis/juvenile polyposis coli 1 1
Generalized pustular psoriasis 1 1
Glaucoma 3, primary congenital, D 1 1
Glaucoma 3, primary infantile, B; Multiple cutaneous and mucosal venous malformations 1 1
Glaucoma 3A; Irido-corneo-trabecular dysgenesis 1 1
Global developmental delay with speech and behavioral abnormalities 1 1
Glomerulopathy with fibronectin deposits 2; Plasma fibronectin deficiency 1 1
Glomuvenous malformation 1 1
Glucocorticoid resistance 1 1
Glutaric aciduria, type 1 1 1
Glutaryl-CoA oxidase deficiency 1 1
Glycogen phosphorylase kinase deficiency 1 1
Glycogen storage disease due to muscle beta-enolase deficiency 1 1
Glycogen storage disease type X 1 1
Gorlin syndrome 1 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 1 1
HBB-related disorder 1 1
HIVEP2-related disorder 1 1
HNRNPU-related disorder 1 1
HNSHA due to aldolase A deficiency 1 1
HSD10 mitochondrial disease 1 1
HSD17B10-related disorder 1 1
HSPB1-related disorder 1 1
Harel-Yoon syndrome 1 1
Hearing loss, autosomal recessive 1 1
Hearing loss, autosomal recessive 106 1 1
Hennekam lymphangiectasia-lymphedema syndrome 1 1
Hennekam lymphangiectasia-lymphedema syndrome 1 1 1
Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to 1 1
Hereditary breast ovarian cancer syndrome; BRCA2-related disorder 1 1
Hereditary cancer 1 1
Hereditary diffuse leukoencephalopathy with spheroids 1 1
Hereditary factor XI deficiency disease 1 1
Hereditary fructosuria 1 1
Hereditary insensitivity to pain with anhidrosis 1 1
Hereditary liability to pressure palsies 1 1
Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, type 2A 1 1
Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 1 1
Hereditary nonpolyposis colorectal neoplasms 1 1
Hereditary pancreatitis 1 1
Hereditary pheochromocytoma and paraganglioma 1 1
Hereditary sensory and autonomic neuropathy type 6 1 1
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 1 1
Hereditary sensory and autonomic neuropathy type 7 1 1
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 1 1
Hereditary site-specific ovarian cancer syndrome 1 1
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C 1 1
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 1 1
Hereditary spastic paraplegia 44 1 1
Hereditary spastic paraplegia 46 1 1
Hereditary spastic paraplegia 48 1 1
Hereditary spastic paraplegia 5A 1 1
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia 1 1
Hereditary spherocytosis; Elliptocytosis 3; Spherocytosis 1 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 1
Hermansky-Pudlak syndrome 2 1 1
Heterotaxy, visceral, 5, autosomal 1 1
History of neurodevelopmental disorder 1 1
Hoyeraal-Hreidarsson syndrome; Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 1 1
Hurler syndrome; Mucopolysaccharidosis type 1 1 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 1
Hyperammonemia, type III 1 1
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 1 1
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 1 1
Hyperphosphatasia with intellectual disability syndrome 2 1 1
Hypertrophic cardiomyopathy 1 1 1
Hypertrophic cardiomyopathy 11; Left ventricular noncompaction 1; Dilated cardiomyopathy 1R; Atrial septal defect 5; Distal arthrogryposis 1 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 1 1
Hypogonadism with anosmia 1 1
Hypogonadotropic hypogonadism 6 with or without anosmia 1 1
Hypomyelinating leukodystrophy 3 1 1
Hypoparathyroidism, deafness, renal disease syndrome 1 1
Hypophosphatasia 1 1
Hypophosphatemia 1 1
Hypotonia, ataxia, and delayed development syndrome 1 1
Hypotrichosis 6 1 1
IGF1R-related disorder 1 1
IL1RAPL1-related disorder 1 1
ISPD-related disorder 1 1
Ichthyosis prematurity syndrome 1 1
IgAD1; Immunodeficiency, common variable, 2 1 1
Imerslund-Grasbeck syndrome 1 1
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 1 1
Immunodeficiency 51 1 1
Immunodeficiency 53 1 1
Immunodeficiency 57; Autoinflammation with episodic fever and lymphadenopathy 1 1
Immunodeficiency, common variable, 12 1 1
Immunodeficiency, common variable, 1; Immunodeficiency, common variable, 10 1 1
Immunodeficiency, common variable, 2 1 1
Immunodeficiency, common variable, 5 1 1
Infantile cerebellar-retinal degeneration; Optic atrophy 9 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Ehlers-Danlos syndrome 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 1 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 1 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 1 1
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer 1 1
Intellectual developmental disorder 61 1 1
Intellectual developmental disorder with autism and macrocephaly 1 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 1 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 1 1
Intellectual developmental disorder with seizures and language delay 1 1
Intellectual developmental disorder, autosomal dominant 66 1 1
Intellectual disability, X-linked 1 1 1
Intellectual disability, X-linked 21 1 1
Intellectual disability, X-linked 9 1 1
Intellectual disability, X-linked 97 1 1
Intellectual disability, X-linked 99 1 1
Intellectual disability, X-linked, with or without seizures, ARX-related; ARX-related epileptic encephalopathy 1 1
Intellectual disability, autosomal dominant 1 1 1
Intellectual disability, autosomal dominant 14 1 1
Intellectual disability, autosomal dominant 4 1 1
Intellectual disability, autosomal dominant 5 1 1
Intellectual disability, autosomal dominant 5; Infantile epileptic dyskinetic encephalopathy 1 1
Intellectual disability, autosomal dominant 9 1 1
Intellectual disability, autosomal recessive 1 1 1
Intellectual disability, autosomal recessive 13 1 1
Intellectual disability, autosomal recessive 18 1 1
Intellectual disability, autosomal recessive 34 1 1
Intellectual disability, autosomal recessive 5 1 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1
Intellectual disability; Benign neonatal seizures; Lennox-Gastaut syndrome 1 1
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 1
Joubert syndrome 13 1 1
Joubert syndrome 26 1 1
Junctional epidermolysis bullosa 1 1
Juvenile myoclonic epilepsy 1 1
KANK1-related disorder 1 1
KCN2A-related disorder 1 1
KCNA2-related disorder 1 1
KCND3-related disorder 1 1
KCNH1-related neurodevelopmental disorder with multiple anomalies 1 1
KCNQ1-related disorder 1 1
KCNQ2-Related Disorders 1 1
KLF7-related neurodevelopmental disorder 1 1
KMT2B-related disorder 1 1
KMT5B-related disorder 1 1
Kearns-Sayre syndrome; Leber optic atrophy; MERRF syndrome; MELAS syndrome; NARP syndrome; Leigh syndrome; Progressive external ophthalmoplegia 1 1
Keppen-Lubinsky syndrome 1 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 1 1
LMNB1-related primary microcephaly 1 1
LRP4-related disorder 1 1
LRP5-related exudative vitreoretinopathy 1 1
LTBP2-related disorder 1 1
LZTR1-related disorder 1 1
Landau-Kleffner syndrome 1 1
Late-onset retinal degeneration 1 1
Leber congenital amaurosis 10; Meckel syndrome, type 4; Joubert syndrome 5; Renal dysplasia and retinal aplasia 1 1
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 1 1
Leber congenital amaurosis 4; CONE-ROD DYSTROPHY, AIPL1-RELATED; Juvenile retinitis pigmentosa, AIPL1-related; AIPL1-related disorder 1 1
Leber congenital amaurosis with early-onset deafness 1 1
Leber optic atrophy; MELAS syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 1
Leber optic atrophy; NARP syndrome; Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 1
Leigh syndrome; Charcot-Marie-Tooth disease type 4K 1 1
Leigh syndrome; Dilated cardiomyopathy 1GG 1 1
Leukemia, acute lymphoblastic, susceptibility to, 3 1 1
Leukemia, acute myeloid with eosinophilia 1 1
Leukocyte adhesion deficiency 3 1 1
Lewy body dementia; Autosomal dominant Parkinson disease 1 1 1
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset 1 1
Leydig cell agenesis 1 1
Li-Fraumeni syndrome 1 1 1
Lissencephaly 9 with complex brainstem malformation 1 1
Lissencephaly due to LIS1 mutation 1 1
Lissencephaly due to TUBA1A mutation 1 1
Lissencephaly; Polymicrogyria 1 1
Loeys-Dietz syndrome 1 1
Loeys-Dietz syndrome; Thoracic aortic aneurysm; Thoracic aortic dissection 1 1
Long QT syndrome 1 1 1
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 1 1
Luscan-Lumish syndrome 1 1
Lynch syndrome 1; Mismatch repair cancer syndrome 1 1 1
Lynch syndrome 4 1 1
Lynch syndrome 4; Mismatch repair cancer syndrome 4 1 1
Lynch syndrome 8 1 1
MAN1B1-congenital disorder of glycosylation 1 1
MAPK8IP3-related disorder 1 1
MAPT-Related Spectrum Disorders 1 1
MATR3-related disorder 1 1
MBD5 associated neurodevelopmental disorder 1 1
MECP2-related disorder 1 1
MED12L-related neurodevelopmental disorder 1 1
MEGF10-related disorder 1 1
MEGF10-related myopathy 1 1
MEIS2-related disorder 1 1
MELAS syndrome 1 1
MPDU1-congenital disorder of glycosylation 1 1
MPI-congenital disorder of glycosylation 1 1
MSL3-related disorder 1 1
MYCBP2-related neurodevelopmental disorder 1 1
MYH2-related myopathy 1 1
MYH7-related cardiomyopathy 1 1
MYH9-related disorder 1 1
MYO7A-related disorder 1 1
MYOM1-related disorder 1 1
MYPN-related myopathy 1 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1 1
Macrocephaly-autism syndrome; Cowden syndrome 1 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 1
Malignant hyperthermia of anesthesia 1 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy 1 1
Mannose-binding lectin deficiency 1 1
Maple syrup urine disease type 1B 1 1
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis 1 1
Marshall syndrome; Stickler syndrome type 2 1 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 1 1
Marshall-Smith syndrome; Malan overgrowth syndrome 1 1
Megaconial type congenital muscular dystrophy 1 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 1
Meier-Gorlin syndrome 1 1 1
Meier-Gorlin syndrome 4 1 1
Melanoma, cutaneous malignant, susceptibility to, 1 1 1
Melanoma-pancreatic cancer syndrome 1 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Neuronopathy, distal hereditary motor, autosomal dominant 1 1 1
Methylcobalamin deficiency type cblE 1 1
Methylcrotonyl-CoA carboxylase deficiency 1 1
Methylmalonic aciduria, cblA type 1 1
Microcephalic osteodysplastic primordial dwarfism type II 1 1
Microcephaly, normal intelligence and immunodeficiency 1 1
Microcephaly, seizures, and developmental delay 1 1
Microphthalmia with limb anomalies 1 1
Mismatch repair cancer syndrome 1 1 1
Mismatch repair cancer syndrome 1; Lynch syndrome 1 1
Mismatch repair cancer syndrome 1; Lynch syndrome 5 1 1
Mitochondrial DNA depletion syndrome 11 1 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE 1 1
Mitochondrial DNA depletion syndrome 9 1 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 1 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 1
Mitochondrial complex I deficiency, nuclear type 1 1 1
Mitochondrial complex I deficiency, nuclear type 5 1 1
Mitochondrial complex I deficiency; Leigh syndrome 1 1
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 1 1
Mitochondrial complex IV deficiency, nuclear type 1 1 1
Mitochondrial cytochrome c oxidase deficiency 1 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 1
Mitochondrial-DNA disorder 1 1
Monosomy 13q34 1 1
Mosaic supernumerary isodicentric chromosome 10 1 1
Mucocutaneous ulceration, chronic 1 1
Mucopolysaccharidosis type 1 1 1
Mucopolysaccharidosis, MPS-II 1 1
Mucopolysaccharidosis, MPS-III-B 1 1
Mucopolysaccharidosis, MPS-IV-B 1 1
Multiple acyl-CoA dehydrogenase deficiency 1 1
Multiple congenital exostosis 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 1 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; POMGNT1-related disorder 1 1
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 1 1
Myoclonus-dystonia syndrome 1 1
Myofibrillar myopathy 3 1 1
Myofibrillar myopathy 5 1 1
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 1 1
Myofibrillar myopathy 5; Primary familial hypertrophic cardiomyopathy; Distal myopathy with posterior leg and anterior hand involvement 1 1
Myopathy, centronuclear, 2 1 1
Myopathy, distal, 5 1 1
Myopathy, tubular aggregate, 1; Combined immunodeficiency due to ORAI1 deficiency 1 1
NACC1-related disorder 1 1
NCKAP1-related disorder 1 1
NFIA-Related Disorder 1 1
NFIB-related neurodevelopmental disorder 1 1
NGF-related disorder 1 1
NOTCH1-related disorder 1 1
NRXN-related disorder 1 1
NRXN1-related disorder 1 1
Nemaline myopathy 1 1
Nemaline myopathy 6 1 1
Netherton syndrome 1 1
Neuroblastoma, susceptibility to, 3 1 1
Neurodegeneration with brain iron accumulation 1 1
Neurodegeneration with brain iron accumulation 4; Hereditary spastic paraplegia 43 1 1
Neurodegeneration with brain iron accumulation 5 1 1
Neurodegeneration with brain iron accumulation 6 1 1
Neurodegeneration with brain iron accumulation 8 1 1
Neurodevelopmental and congenital anomalies 1 1
Neurodevelopmental delay 1 1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 1 1
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 1 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 1 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 1 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 1 1
Neurodevelopmental, jaw, eye, and digital syndrome 1 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome 1 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 1 1
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin 1 1
Neuronal ceroid lipofuscinosis 2 1 1
Neuronal ceroid lipofuscinosis 5 1 1
Neuronal ceroid lipofuscinosis 8 1 1
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C; TRPV4-related bone disorder 1 1
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 1 1
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E 1 1
Neuropathy, hereditary sensory and autonomic, type 1C 1 1
Nicolaides-Baraitser syndrome; Coffin-Siris syndrome 1 1
Niemann-Pick disease, type C1 1 1
Niemann-Pick disease, type C2 1 1
Nijmegen breakage syndrome-like disorder 1 1
Noonan syndrome 1 1
Noonan syndrome 10 1 1
Noonan syndrome 6 1 1
Noonan syndrome-like disorder with loose anagen hair 1 1
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 1 1
Obesity due to prohormone convertase I deficiency 1 1
Optic atrophy 1 1
Osteocraniostenosis; Autosomal dominant Kenny-Caffey syndrome 1 1
Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome; Roifman syndrome 1 1
Osteogenesis imperfecta type 12 1 1
Osteogenesis imperfecta type 7 1 1
Osteogenesis imperfecta type 8 1 1
Osteogenesis imperfecta type I 1 1
Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type 1 1
Osteogenesis imperfecta; Ehlers-Danlos syndrome 1 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 1 1
PALB2-related cancer predisposition 1 1
PALB2-related disorder 1 1
PDCD10-related disorder 1 1
PDX1-related disorder 1 1
PGK1-related disorder 1 1
PGM1-congenital disorder of glycosylation 1 1
PINK1-Related Parkinsonism 1 1
PLOD3-related disorder 1 1
PMM2-congenital disorder of glycosylation 1 1
POGZ-related disorder 1 1
POLE-related polyposis and colorectal cancer syndrome 1 1
POLR3B-related disorder 1 1
POMGNT1-related disorder 1 1
PPFIA3-related neurodevelopmental disorder 1 1
PPP2R1A-related disorder 1 1
PPP2R2B-related disorder 1 1
PTCH2-related disorder 1 1
PTCHD1-related neurodevelopmental disorder 1 1
PYGM-related disorder 1 1
Palmoplantar keratoderma-esophageal carcinoma syndrome 1 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 1
Pancreatitis 1 1
Parkinson disease 1 1
Paroxysmal nonkinesigenic dyskinesia 1 1 1
Partial androgen insensitivity syndrome 1 1
Patterned macular dystrophy 2 1 1
Pelger-Huët anomaly; Greenberg dysplasia; Regressive spondylometaphyseal dysplasia 1 1
Periodic fever syndrome 1 1
Periventricular heterotopia with microcephaly, autosomal recessive 1 1
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2 1 1
Peroxisome biogenesis disorder 1 1
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 1 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1 1
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 1
Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B 1 1
Perrault syndrome 3 1 1
Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 1 1
Pettigrew syndrome; Fried syndrome 1 1
Peutz-Jeghers syndrome 1 1
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 1 1
Pigmentary pallidal degeneration 1 1
Pigmentary retinal dystrophy 1 1
Pigmented nodular adrenocortical disease, primary, 1; Acrodysostosis 1 with or without hormone resistance; Carney complex 1 1
Pitt-Hopkins-like syndrome 2 1 1
Pituitary hormone deficiency, combined, 1 1 1
Pityriasis rubra pilaris; Psoriasis 2 1 1
Polycystic kidney disease 3 with or without polycystic liver disease 1 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy 1 1
Polymerase proofreading-related adenomatous polyposis 1 1
Pontocerebellar hypoplasia type 1A 1 1
Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2 1 1
Pontocerebellar hypoplasia type 5 1 1
Pontocerebellar hypoplasia, type 1C 1 1
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myopathy 22A, classic 1 1
Primary ciliary dyskinesia 11 1 1
Primary ciliary dyskinesia 34 1 1
Primary ciliary dyskinesia 6 1 1
Primary dilated cardiomyopathy 1 1
Primary dilated cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Lethal acantholytic epidermolysis bullosa; Arrhythmogenic right ventricular cardiomyopathy; Severe dermatitis-multiple allergies-metabolic wasting syndrome; Palmoplantar keratoderma; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 1
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Left ventricular noncompaction 1 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 1 1 1
Primary hyperoxaluria, type II 1 1
Primary open angle glaucoma; Herpes simplex encephalitis, susceptibility to, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 1 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 1 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 1 1
Propionic acidemia 1 1
Prostate cancer, hereditary, 9 1 1
Proximal 16p11.2 microdeletion syndrome 1 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 1 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 1 1
Pyogenic bacterial infections due to MyD88 deficiency 1 1
Pyridoxal phosphate-responsive seizures 1 1
RAB39B-related disorder 1 1
RRM2B-related mitochondrial disease 1 1
Radial aplasia-thrombocytopenia syndrome 1 1
Refractory anemia with ringed sideroblasts 1 1
Renal carnitine transport defect 1 1
Renal coloboma syndrome 1 1
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus 1 1
Renier-Gabreels-Jasper syndrome 1 1
Retinitis pigmentosa 31 1 1
Retinitis pigmentosa 38 1 1
Retinitis pigmentosa 73 1 1
Retinitis pigmentosa; Usher syndrome type 3A 1 1
Rett syndrome 1 1
Rh-null, regulator type 1 1
Rhabdoid tumor predisposition syndrome 2 1 1
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 1 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1
SAMD9-related disorder 1 1
SATB2-related disorder 1 1
SCAMP5-related neurodevelopmental and movement disorder 1 1
SCN10A-related disorder 1 1
SCN1B-related disorder 1 1
SCN3A-related disorder 1 1
SCN4A-related disorder 1 1
SCN8A-related disorder 1 1
SETBP1-related disorder 1 1
SHANK2-related disorder 1 1
SHORT syndrome 1 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation 1 1
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Developmental delay with autism spectrum disorder and gait instability 1 1
SLC26A4-related disorder 1 1
SLC6A2-related disorder 1 1
SMAD3-related disorder 1 1
SMS-related disorder 1 1
SOX2-related disorder 1 1
SPEN-related neurodevelopmental disorder 1 1
SQSTM1-related disorder 1 1
STAG1-related disorder 1 1
STAT1-related disorder 1 1
STRA6-related disorder 1 1
STT3B-congenital disorder of glycosylation 1 1
SYN1-related neurodevelopmental disorder 1 1
SYT2-related myasthenia 1 1
Schaaf-Yang syndrome 1 1
Schizophrenia 1 1
Schizophrenia; Autism spectrum disorder; Intellectual disability 1 1
Schuurs-Hoeijmakers syndrome 1 1
Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 1 1
Seizure; Intellectual disability; Developmental delay 1 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 1 1
Severe combined immunodeficiency disease 1 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 1
Severe myoclonic epilepsy in infancy 1 1
Severe myoclonic epilepsy in infancy; Epilepsy 1 1
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy 1 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 1 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 1 1
Sialic acid storage disease, severe infantile type; Salla disease 1 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1
Spinal muscular atrophy 1 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 1 1
Spinocerebellar ataxia 47 1 1
Spinocerebellar ataxia type 26 1 1
Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12 1 1
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 1 1
Spinocerebellar ataxia type 42 1 1
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 1
Spondyloepimetaphyseal dysplasia, Genevieve type 1 1
Spongy degeneration of central nervous system 1 1
Squamous cell lung carcinoma; Breast carcinoma 1 1
Stankiewicz-Isidor syndrome 1 1
Stargardt disease; Cone-rod dystrophy 1 1
Sterol carrier protein 2 deficiency 1 1
Susceptibility to severe cutaneous adverse reaction 1 1
Syndromic X-linked intellectual disability 94 1 1
Syndromic X-linked intellectual disability Lubs type; Rett syndrome 1 1
Syndromic X-linked intellectual disability Siderius type 1 1
Syndromic complex neurodevelopmental disorder 1 1
Systemic lupus erythematosus 17 1 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1
TANGO2-related disorder 1 1
TCF12-related craniosynostosis 1 1
TERT-associated disorder 1 1
TLK2-related disorder 1 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 1
TRAF7-related disorder 1 1
TRIO-related disorder 1 1
TRPM3-related disorder 1 1
TRPV4-related disorder 1 1
TSC2-related disorder 1 1
Tay-Sachs disease 1 1
Thiamine-responsive megaloblastic anemia 1 1
Thrombophilia due to protein C deficiency, autosomal dominant 1 1
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 1 1
Torsion dystonia 6 1 1
Transketolase deficiency 1 1
Treacher Collins syndrome 1 1 1
Trichorhinophalangeal syndrome, type III 1 1
Tuberous sclerosis 1 1 1
Tuberous sclerosis syndrome 1 1
Type 2 collagenopathy 1 1
Type 2 diabetes mellitus 1 1
Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 1 1
Type A2 brachydactyly 1 1
UBA2-related neurodevelopmental disorder with multiple anomalies 1 1
UBTF-related disorder 1 1
UPF3B-associated intellectual disability 1 1
USP7-related disorder 1 1
USP9X-related disorder 1 1
Ullrich congenital muscular dystrophy; Bethlem myopathy 1 1
Undetermined early-onset epileptic encephalopathy 1 1
Usher syndrome type 1 1 1
Van Maldergem syndrome 1; Hennekam lymphangiectasia-lymphedema syndrome 1; Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 1 1
Velocardiofacial syndrome; DiGeorge syndrome 1 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 1 1
Von Hippel-Lindau syndrome 1 1
WASF1-related neurodevelopmental disorder 1 1
WDR81-related disorder 1 1
Welander distal myopathy 1 1
Werner syndrome 1 1
Wieacker-Wolff syndrome 1 1
Wiedemann-Steiner syndrome 1 1
Wolcott-Rallison dysplasia 1 1
X-linked Alport syndrome 1 1
X-linked acrogigantism due to Xq26 microduplication 1 1
X-linked chondrodysplasia punctata 1 1 1
X-linked complex neurodevelopmental disorder 1 1
X-linked dystonia-parkinsonism 1 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 1
X-linked intellectual disability syndrome 1 1
X-linked intellectual disability, Cantagrel type 1 1
X-linked myopathy with postural muscle atrophy 1 1
ZMYM2-related neurodevelopmental disorder with multiple anomalies 1 1
ZMYND11-related neurodevelopmental disorder with multiple anomalies 1 1
ZTTK syndrome 1 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 1 1
alpha Thalassemia 1 1
alpha Thalassemia; Hemoglobin H disease; Hemoglobin Bart hydrops syndrome 1 1
mtDNA-related disorders 1 1

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