ClinVar Miner

Variants from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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

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

pathogenic likely pathogenic uncertain significance likely benign benign association total
668 530 263 0 0 1 1453

Gene and significance breakdown #

Total genes and gene combinations: 863
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Gene or gene combination pathogenic likely pathogenic uncertain significance association total
FBN1 8 17 2 0 27
FLNB 6 5 1 0 12
COL1A1 4 7 0 0 11
COMP 4 8 0 0 11
GALNS 5 5 1 0 11
COL2A1 3 5 2 0 10
GLB1 7 2 1 0 10
CHST3 1 7 0 0 8
FGFR3 5 4 0 0 8
PHEX 7 1 0 0 8
ARSA 5 2 0 0 7
CAPN3 4 3 0 0 7
DMD 7 0 0 0 7
GALC 3 3 1 0 7
GNPTAB 5 1 1 0 7
HEXA 4 3 0 0 7
MMP2 5 1 1 0 7
PRG4 5 1 1 0 7
ATM 5 1 0 0 6
COL7A1 4 1 1 0 6
IDS 4 2 0 0 6
MECP2 5 1 0 0 6
PKD1 3 2 1 0 6
SLC12A3 3 3 0 0 6
TONSL 1 0 5 0 6
ATM, C11orf65 3 0 2 0 5
BTD 2 3 0 0 5
COL10A1, NT5DC1 4 1 0 0 5
CREBBP 4 1 0 0 5
CTSK 3 1 1 0 5
DYSF 2 3 0 0 5
GJB2 5 0 0 0 5
LAMA2 4 0 1 0 5
NF1 4 1 0 0 5
PAX3 3 2 0 0 5
SURF1 1 3 1 0 5
TGFBR2 0 5 0 0 5
AGL 3 0 1 0 4
ARG1, MED23 1 1 2 0 4
ASNS, CZ1P-ASNS 0 4 0 0 4
BCL11B 3 1 0 0 4
CFTR 4 0 0 0 4
COL1A2 1 2 1 0 4
COL4A3, MFF-DT 3 0 1 0 4
CYP27A1 2 2 0 0 4
EDNRB 1 1 2 0 4
FOXG1 3 1 0 0 4
GBE1 1 3 0 0 4
GCDH 3 1 0 0 4
GHR 2 1 1 0 4
GJC2 2 0 2 0 4
IDUA 2 2 0 0 4
KCTD7 1 2 1 0 4
KDM5C 2 2 0 0 4
LOC102724058, SCN1A 3 1 0 0 4
MITF 3 1 0 0 4
MTHFR 2 2 0 0 4
MVK 1 2 1 0 4
MYH3 1 4 0 0 4
NPR2 1 2 1 0 4
OCA2 1 3 0 0 4
SCN2A 2 1 1 0 4
SERPINF1 2 1 1 0 4
SLC19A3 2 1 1 0 4
SPINK5 2 0 2 0 4
TPP1 3 1 0 0 4
TRPV4 3 1 0 0 4
TSC2 4 0 0 0 4
VARS1 0 0 4 0 4
ABCC8 2 0 1 0 3
ACAT1 2 1 0 0 3
ADA2 2 1 0 0 3
ADGRG1 1 2 0 0 3
AGXT 3 0 0 0 3
ALDH7A1 2 1 0 0 3
ANKRD11 2 1 0 0 3
ATP7A 2 0 1 0 3
ATP7B 2 1 0 0 3
BRCA1 2 0 1 0 3
CC2D2A 0 3 0 0 3
CEP290 1 2 0 0 3
CHD7 3 0 0 0 3
CLCN7 1 2 0 0 3
CLCNKB, LOC106501713 3 0 1 0 3
CLN6 0 3 0 0 3
COL4A4 1 0 2 0 3
COL6A2 2 1 0 0 3
DYM 3 0 0 0 3
EVC2 2 1 0 0 3
EXT1 1 2 0 0 3
FANCL 3 0 0 0 3
GATAD2B 3 0 0 0 3
GFAP 2 1 0 0 3
GNAS 2 1 0 0 3
GNE 0 2 1 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
HGD 1 1 1 0 3
INVS 2 0 1 0 3
KANSL1 2 1 0 0 3
KCNQ2 1 2 0 0 3
KCNT1 2 1 0 0 3
KMT2A 3 0 0 0 3
LMNA 3 0 0 0 3
LOC100507346, PTCH1 3 0 0 0 3
LRBA 0 0 3 0 3
MFN2 2 1 0 0 3
MLC1 3 0 0 0 3
NAGLU 1 2 0 0 3
NEK1 2 1 0 0 3
NEU1 1 1 1 0 3
NIPBL 1 2 0 0 3
OBSL1 2 0 1 0 3
PAH 1 0 2 0 3
PAPSS2 1 1 1 0 3
PCNT 3 0 0 0 3
PHEX, PTCHD1 2 1 0 0 3
PIDD1 1 1 1 0 3
POLR2F, SOX10 1 1 1 0 3
POMT2 0 0 3 0 3
PSAP 1 1 1 0 3
RYR1 0 2 1 0 3
SDHB 1 1 1 0 3
SLC13A5 1 1 1 0 3
SMPD1 3 0 0 0 3
STXBP1 1 1 1 0 3
TNFRSF11A 1 1 1 0 3
TRAPPC12 1 0 2 0 3
VPS13B 2 1 0 0 3
WFS1 2 1 0 0 3
XPA 2 1 0 0 3
ZBTB18 1 2 0 0 3
ABCB11 1 0 1 0 2
ABCC6 0 0 2 0 2
ACSF3 0 1 1 0 2
ADAMTS13 0 2 0 0 2
ADPRS 2 0 0 0 2
AGO1 0 2 0 0 2
AGRN 0 0 2 0 2
ASPA, SPATA22 1 1 0 0 2
ASS1 1 1 0 0 2
ATRIP, ATRIP-TREX1, TREX1 0 1 1 0 2
ATRX 1 1 0 0 2
AUH 1 1 0 0 2
BMPR1B 0 0 2 0 2
BRAF 1 1 0 0 2
BRAT1 0 0 2 0 2
C19orf12 0 2 0 0 2
C1QA 1 1 0 0 2
C6orf15, CDSN, PSORS1C1 2 0 0 0 2
CACNA1A 1 1 0 0 2
CCN6 0 2 0 0 2
CLCN1 0 2 0 0 2
CLPP 1 1 0 0 2
COL27A1 0 0 2 0 2
COL4A5 2 0 0 0 2
COL6A1 2 0 0 0 2
CPLANE1 1 1 0 0 2
CYP27B1 1 0 1 0 2
CYP2U1 1 1 0 0 2
DARS2 0 2 0 0 2
DDX3X 1 1 0 0 2
DKC1 1 1 0 0 2
DOCK11 0 0 2 0 2
DOCK8 0 2 0 0 2
DOK7 1 1 0 0 2
DUOX2 0 0 2 0 2
DYNC1H1 0 2 0 0 2
DYNC2H1 1 0 1 0 2
EBP 1 1 0 0 2
ECEL1 1 1 0 0 2
EIF2B5 1 1 0 0 2
ERCC8 1 1 0 0 2
FANCA 0 2 0 0 2
FGF12 1 1 0 0 2
FGF23 0 2 0 0 2
FGFR2 2 0 0 0 2
GABRA2 1 0 1 0 2
GALT 1 1 0 0 2
GBA1, LOC106627981 1 1 0 0 2
GH-LCR, SCN4A 1 0 1 0 2
GLB1, LOC129936434, TMPPE 2 0 0 0 2
GLDC 0 0 2 0 2
GNAO1 1 1 0 0 2
GRHPR 2 0 0 0 2
GRIN2B 2 0 0 0 2
HEXB 0 0 2 0 2
HK1 1 1 0 0 2
HNRNPH2, RPL36A-HNRNPH2 0 2 0 0 2
HPGD 2 0 0 0 2
HPRT1 1 0 1 0 2
HSD17B4 0 2 0 0 2
IDH1 2 0 0 0 2
IHH 1 1 0 0 2
INTS11 1 0 1 0 2
IQCB1 2 0 0 0 2
KMT2D 0 2 0 0 2
LACC1 0 1 1 0 2
LAMC2 2 0 0 0 2
LOC101928525, MRPS2 0 2 0 0 2
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 2 0 0 0 2
LOC126861242, NDUFV1 1 1 0 0 2
LOC126861898, MYH7 2 0 0 0 2
LONP1 0 0 2 0 2
LPAR6, RB1 2 0 0 0 2
LPIN2 0 1 1 0 2
LPL 2 0 0 0 2
LRRK1 2 0 0 0 2
MAN1B1 2 0 0 0 2
MCOLN1 0 0 2 0 2
MMAB 0 2 0 0 2
MSTO1 0 1 1 0 2
MYO7A 1 0 1 0 2
MYO9A 0 0 2 0 2
NALCN 1 1 0 0 2
NDUFV1 1 1 0 0 2
NEXMIF 1 1 0 0 2
NOD2 1 1 0 0 2
NPC2 1 1 0 0 2
NR5A1 0 2 0 0 2
NSD1 1 1 0 0 2
OCLN 2 0 0 0 2
OFD1, TRAPPC2 2 0 0 0 2
P3H1 1 1 0 0 2
PANK2 0 1 1 0 2
PCCA 0 2 0 0 2
PHKA2 1 1 0 0 2
PHKG2 1 1 0 0 2
PIBF1 0 1 1 0 2
PIEZO1 0 1 1 0 2
PIGG 0 1 1 0 2
PKHD1 0 0 2 0 2
PLEC 1 1 0 0 2
PLP1, RAB9B 2 0 0 0 2
PMS2 2 0 0 0 2
POLR1C 1 1 0 0 2
POLR3A 1 1 0 0 2
POMGNT1, TSPAN1 0 2 0 0 2
PSTPIP1 2 0 0 0 2
PTEN 2 0 0 0 2
PTH1R 0 0 2 0 2
PYGM 1 1 0 0 2
RAB33B 0 1 1 0 2
RNASEH2C 1 0 1 0 2
RNU4-2 1 1 0 0 2
RPL13 1 1 0 0 2
SCYL1 0 2 0 0 2
SETBP1 1 1 0 0 2
SGCB 1 0 1 0 2
SLC37A4 2 0 0 0 2
SLC4A1 2 0 0 0 2
SLCO2A1 0 1 1 0 2
SMARCA2 0 1 1 0 2
SNX14 1 0 1 0 2
SPG11 2 0 0 0 2
SRCAP 1 1 0 0 2
STAT3 1 1 0 0 2
SUCLA2 0 2 0 0 2
TBCK 1 1 0 0 2
TCIRG1 2 0 0 0 2
TCOF1 2 0 0 0 2
TF 0 1 1 0 2
TGFBR1 0 2 0 0 2
TMEM67 0 2 0 0 2
TRAPPC4 0 0 2 0 2
TRIP11 1 0 1 0 2
TRPM6 1 0 1 0 2
TSPEAR 1 1 0 0 2
TTC8 1 0 1 0 2
TUBA1A 0 2 0 0 2
TUBB4A 1 1 0 0 2
VDR 1 1 0 0 2
VPS33B 0 2 0 0 2
WDR45 1 0 1 0 2
WDR72 1 1 0 0 2
XPC 2 0 0 0 2
​intergenic 1 0 0 0 1
AASDH, ADAMTS3, ADGRL3, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CDKL2, CENPC, CEP135, CHIC2, CLOCK, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, INKILN, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02358, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02835, LNX1, LOC100506444, LOC101927237, LOC105377253, LOC105377672, LOC107986281, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC550113, LRRC66, MIR1269A, MIR4449, MIR548AG1, MOB1B, MTHFD2L, MUC7, NAAA, NMU, NOA1, NPFFR2, ODAM, ODAPH, OPRPN, PAICS, PARM1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, PPBP, PPEF2, PRR27, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCFD2, SDAD1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, USO1, USP46, USP46-DT, UTP3, YTHDC1 1 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3K, ZNHIT3 1 0 0 0 1
ABCA12 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 1
ABCA2 0 1 0 0 1
ABCD1, PLXNB3 1 0 0 0 1
ABHD13, ADPRHL1, ANKRD10, ARGLU1, ARGLU1-DT, ARHGEF7, ATP11A, ATP11AUN, ATP4B, BIVM, BIVM-ERCC5, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DAOA, DCUN1D2, EFNB2, ERCC5, F10, F7, FGF14, FGF14-IT1, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, ITGBL1, LAMP1, LIG4, LINC00343, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00443, LINC00452, LINC00454, LINC00460, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01054, LINC01070, LINC01309, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370349, LOC105370362, LOC107992391, LOC110120930, LOC110121336, LOC110121473, LOC112163640, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946331, LOC124946333, LOC124946334, LOC124946336, LOC124946337, LOC124946338, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861833, LOC126861834, LOC126861835, LOC126861836, LOC126861837, LOC126861838, LOC126861839, LOC126861840, LOC126861841, LOC126861842, LOC126861843, LOC126861844, LOC126861845, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010068, LOC130010069, LOC130010070, LOC130010071, LOC130010072, LOC130010073, LOC130010074, LOC130010075, LOC130010076, LOC130010077, LOC130010078, LOC130010079, LOC130010080, LOC130010081, LOC130010082, LOC130010083, LOC130010084, LOC130010085, LOC130010086, LOC130010087, LOC130010088, LOC130010089, LOC130010090, LOC130010091, LOC130010092, LOC130010093, LOC130010094, LOC130010095, LOC130010096, LOC130010097, LOC130010098, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090155, LOC132090156, LOC132090157, LOC132090158, LOC132090159, LOC132090160, LOC132090161, LOC132090162, LOC132090163, LOC132090164, LOC132090165, LOC132090166, LOC132090167, LOC132090168, LOC132090169, LOC132090170, LOC132090171, LOC132090172, LOC132090173, LOC132090174, LOC132090867, LRTM3, MCF2L, METTL21C, MIR1267, MIR2681, MIR4502, MIR4705, MIR548AR, MIR8073, MIR8075, MYO16, NALF1, NALF1-IT1, NAXD, PCID2, POGLUT2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SLC10A2, SLC9D1, SNORD31B, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TEX30, TFDP1, TMEM255B, TNFSF13B, TPP2, TUBGCP3, UPF3A 1 0 0 0 1
ABHD16A 1 0 0 0 1
ACAN 1 0 0 0 1
ACOD1, BORA, CLN5, COMMD6, DACH1, DIS3, EDNRB, FBXL3, KCTD12, KLF12, KLF5, LINC00331, LINC00347, LINC00348, LINC00381, LINC00392, LINC00393, LINC00402, LINC00446, LINC00561, LINC01038, LINC01068, LINC01069, LINC01078, LINC03157, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC105370259, LOC107882127, LOC107882129, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120909, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC124909501, LOC124909502, LOC126861796, LOC126861797, LOC126861798, LOC126861799, LOC126861800, LOC126861801, LOC126861802, LOC126861803, LOC126861804, LOC126861805, LOC126861806, LOC127898562, LOC130009870, LOC130009871, LOC130009872, LOC130009873, LOC130009874, LOC130009875, LOC130009876, LOC130009877, LOC130009878, LOC130009879, LOC130009880, LOC130009881, LOC130009882, LOC130009883, LOC130009884, LOC130009885, LOC130009886, LOC130009887, LOC130009888, LOC130009889, LOC130009890, LOC130009891, LOC130009892, LOC130009893, LOC130009894, LOC130009895, LOC130009896, LOC130009897, LOC130009898, LOC130009899, LOC130009900, LOC130009901, LOC130009902, LOC130009903, LOC130009904, LOC130009905, LOC130009906, LOC130009907, LOC130009908, LOC130009909, LOC130009910, LOC130009911, LOC130009912, LOC130009913, LOC130009914, LOC130009915, LOC130009916, LOC130009917, LOC130009918, LOC130009919, LOC130009920, LOC130009921, LOC130009922, LOC130009923, LOC130009924, LOC130009925, LOC130009926, LOC130009927, LOC130009928, LOC130009929, LOC130009930, LOC130009931, LOC130009932, LOC130009933, LOC130009934, LOC130009935, LOC130009936, LOC130009937, LOC130009938, LOC130009939, LOC130009940, LOC130009941, LOC130009942, LOC130009943, LOC132090198, LOC132090199, LOC132090200, LOC132090201, LOC132090864, LOC780529, MIR3665, MYCBP2, MZT1, NDFIP2, OBI1, PIBF1, POU4F1, RBM26, SCEL, SLAIN1, TBC1D4, UCHL3 1 0 0 0 1
ACP6, BCL9, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPHRB, LINC00624, LINC01731, LINC02805, LINC02806, LOC101927468, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128420, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388602, LOC129388603, LOC129388604, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, MIR5087, NBPF11, NBPF12, PPIAL4H, PRKAB2, RNVU1-7, RNVU1-8, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1 1 0 0 0 1
ACSL4 0 0 1 0 1
ACTA1 0 0 1 0 1
ACVR1 1 0 0 0 1
ADAMTSL2 1 0 0 0 1
ADCY5 0 1 0 0 1
ADGRG6 1 0 0 0 1
ADGRV1 1 0 0 0 1
AFF2 0 1 0 0 1
AFG2A 0 1 0 0 1
AGTPBP1 1 0 0 0 1
AHDC1 0 1 0 0 1
AHI1 1 0 0 0 1
AHR 0 1 0 0 1
AIMP2 0 1 1 0 1
AKAP4, ASMER2, BMP15, CCNB3, CENPVL1, CENPVL2, CENPVL3, CLCN5, DGKK, EZHIP, GSPT2, LINC01284, LINC01496, LOC121627972, LOC125467749, LOC126863258, LOC126863259, LOC126863260, LOC130068288, LOC130068289, LOC130068290, LOC130068291, LOC130068292, LOC130068293, LOC401589, MAGED1, MAGED4, MAGED4B, MIR8088, NUDT10, NUDT11, SHROOM4, SNORA11D, SNORA11E 0 1 0 0 1
AKT3 1 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, C16orf54, CDIPT, CDIPTOSP, DOC2A, FIMP1, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058755, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB11, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1B, SLX1B-SULT1A4, SPN, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 1
ALG11, UTP14C 0 1 0 0 1
ALG12 0 0 1 0 1
ALOX12B 0 1 0 0 1
ALPL 0 1 0 0 1
ALS2 0 1 0 0 1
AMPD2 0 1 0 0 1
AMPD2, LOC126805822 0 1 0 0 1
ANK1 1 0 0 0 1
ANKRD17 0 1 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, LOC121853043, LOC125446232, LOC129391280, LOC130067392, LOC130067393, LOC130067394, LOC130067395, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 0 0 0 1
ANKS6 1 0 0 0 1
ANO5 0 1 0 0 1
ANTXR2 1 0 0 0 1
AP1G1 0 1 0 0 1
AP3B2, CPEB1 1 0 0 0 1
AP4B1 1 0 0 0 1
AP4M1 0 1 0 0 1
AP4S1 1 0 0 0 1
APC 1 0 0 0 1
APPL1 0 0 1 0 1
APTX 0 1 0 0 1
ARID1B 1 0 0 0 1
ARSB 1 0 0 0 1
ARV1 1 0 0 0 1
ARX 1 0 0 0 1
ASCC1 1 0 0 0 1
ASPM 1 0 0 0 1
ASXL1 1 0 0 0 1
ASXL3 1 0 0 0 1
ATAD3A, ATAD3B, LOC129388422, LOC129929131, LOC129929132, LOC129929133 1 0 0 0 1
ATP13A2 1 0 0 0 1
ATP6V0A4 1 0 0 0 1
ATP6V1B2 0 0 1 0 1
ATP8A2 0 1 0 0 1
AUTS2 1 0 0 0 1
AVP 0 0 1 0 1
B3GALNT2 0 1 0 0 1
B9D2 0 1 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BBS10 1 0 0 0 1
BBS2 0 0 1 0 1
BCKDHA 0 1 0 0 1
BCL11A 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 1
BCORL1 0 1 0 0 1
BLK 0 0 1 0 1
BLM 0 1 0 0 1
BMPER 0 0 1 0 1
BMPR2 1 0 0 0 1
BNIP1 0 0 1 0 1
BRCA1, LOC111589215 0 0 1 0 1
BRCA2 0 1 0 0 1
BRIP1 0 0 1 0 1
BRWD3 1 0 0 0 1
C14orf39, SIX6 0 1 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 1
C1QB 1 0 0 0 1
CA5A 0 1 0 0 1
CACNA1A, LOC126862864 0 1 0 0 1
CACNA1G 0 1 0 0 1
CACNA1S 0 0 1 0 1
CANT1 0 0 1 0 1
CARD11 0 0 1 0 1
CARMIL2 1 0 0 0 1
CASK 1 0 0 0 1
CASR 0 0 1 0 1
CD40LG 1 0 0 0 1
CD79A 0 0 1 0 1
CDKL5 1 0 0 0 1
CEP55 1 0 0 0 1
CFAP96, UFSP2 0 1 0 0 1
CFI 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CHAT 0 1 0 0 1
CHD8 1 0 0 0 1
CHEK2 0 1 0 0 1
CHRNA1 0 0 1 0 1
CHST14 0 1 0 0 1
CKAP2L 1 0 0 0 1
CLCNKB 0 1 0 0 1
CLDN1, CLDN16 0 0 1 0 1
CLN3 1 0 0 0 1
CLN5 0 1 0 0 1
CNOT3, LENG1, MBOAT7, PRPF31, TMC4 1 0 0 0 1
CNTNAP2 0 1 0 0 1
COASY 0 1 0 0 1
COG5 0 0 1 0 1
COG8, LOC130059304 1 0 0 0 1
COL18A1 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 1
COL4A2 0 0 1 0 1
COL5A1 0 1 0 0 1
COL5A2 0 1 0 0 1
COL6A3 1 0 0 0 1
COPA 0 0 1 0 1
CPS1 0 1 0 0 1
CREBBP, LOC130058353, LOC130058354, LOC130058355 1 0 0 0 1
CRPPA 0 0 1 0 1
CSNK2A1 1 0 0 0 1
CTCF 0 1 0 0 1
CTNNA2 0 1 0 0 1
CTNNB1 1 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 1
CTNS 0 0 1 0 1
CTRC 0 0 1 0 1
CYB5R3 0 1 0 0 1
CYFIP2 0 1 0 0 1
CYP11A1 1 0 0 0 1
CYP11B1, LOC106799833 0 1 0 0 1
CYP17A1 0 1 0 0 1
CYP21A2, LOC106780800, LOC110631417 0 1 0 0 1
CYP2R1, PDE3B 0 1 0 0 1
CYP2U1, SGMS2 1 0 0 0 1
DAP3 0 1 1 0 1
DCX 0 1 0 0 1
DDC 1 0 0 0 1
DDHD2 0 1 0 0 1
DEAF1 1 0 0 0 1
DEGS1 0 1 0 0 1
DGAT1, LOC130001382, LOC130001383, MIR6848 1 0 0 0 1
DGAT1, LOC130001383, MIR6848 0 1 0 0 1
DLG4 0 1 0 0 1
DLG4, LOC126862479 1 0 0 0 1
DLL1 0 1 0 0 1
DLL3 1 0 0 0 1
DMXL2 0 0 1 0 1
DNAH5 0 0 1 0 1
DNASE1L3 1 0 0 0 1
DNASE2, LOC117125588 0 0 1 0 1
DNM1 0 1 0 0 1
DNMBP 0 1 0 0 1
DOCK7 1 0 0 0 1
DPAGT1, LOC126861360 0 0 1 0 1
DSC2 0 1 0 0 1
DSTYK 0 0 1 0 1
DYRK1A 1 0 0 0 1
ECHS1 0 1 0 0 1
EDA 0 1 0 0 1
EDN3 0 1 0 0 1
EFEMP2 0 1 0 0 1
EFTUD2 0 1 0 0 1
EIF2AK3 1 0 0 0 1
EIF2B1 0 1 0 0 1
EIF2B1, LOC126861664 0 1 0 0 1
EIF2B3 0 1 0 0 1
EIF2B4, GTF3C2 0 0 1 0 1
ELANE 0 1 0 0 1
ERCC3 0 0 1 0 1
ERCC6 1 0 0 0 1
ESCO2 1 0 0 0 1
ETFA 0 1 0 0 1
ETFDH 0 0 1 0 1
ETHE1 0 1 0 0 1
EVC 1 0 0 0 1
EXOC2 0 0 1 0 1
EXOC6B 1 0 0 0 1
EYS 0 0 1 0 1
F5 1 0 0 0 1
FAH 0 1 0 0 1
FAM149B1 0 0 1 0 1
FAM177A1, LOC101927178 0 1 0 0 1
FANCA, LOC132090450 1 0 0 0 1
FAS 0 1 0 0 1
FASTKD2 0 1 0 0 1
FAT4 0 1 0 0 1
FBN1, LOC113939944 0 1 0 0 1
FBN2 0 1 0 0 1
FBP1 0 1 0 0 1
FBXW7 0 1 0 0 1
FERMT1 1 0 0 0 1
FGA 1 0 0 0 1
FGF13 0 1 0 0 1
FGFR1 1 0 0 0 1
FILIP1, LOC126859714 0 1 0 0 1
FKBP10 0 1 0 0 1
FKTN 0 1 0 0 1
FLNA 0 1 0 0 1
FLNC 0 1 0 0 1
FN1 0 1 0 0 1
FRAS1 1 0 0 0 1
FUCA1 1 0 0 0 1
FUCA1, LOC126805661 1 0 0 0 1
G6PC3 0 0 1 0 1
G6PC3, LOC130060959 0 0 1 0 1
G6PD 0 1 0 0 1
GAA 1 0 0 0 1
GABRG2 0 1 0 0 1
GALC, LOC130056217 0 1 0 0 1
GALNS, LOC126862447 0 1 0 0 1
GALNS, LOC130059762, TRAPPC2L 1 0 0 0 1
GALNT2 0 1 0 0 1
GATA2 1 0 0 0 1
GATA3 0 1 0 0 1
GCDH, LOC117125594 1 0 0 0 1
GCH1 0 1 0 0 1
GCSH, LOC130059495 0 1 0 0 1
GEMIN5 0 0 1 0 1
GFAP, LOC130060994 0 1 0 0 1
GHRHR 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 1
GLI3 1 0 0 0 1
GLIS3 0 1 0 0 1
GM2A 0 1 0 0 1
GMPPB 1 0 1 0 1
GNPNAT1 0 0 1 0 1
GNPTG 0 1 0 0 1
GPC4 0 1 0 0 1
GPHN, PIGH 0 0 1 0 1
GPIHBP1 0 1 0 0 1
GPNMB 1 0 0 0 1
GPX4 0 0 1 0 1
GRIN2A 1 0 0 0 1
GUSB 0 0 1 0 1
H1-4 0 1 0 0 1
H4C3 1 0 0 0 1
HACE1 0 0 1 0 1
HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 1 0 0 0 1
HECTD4 0 1 0 0 1
HGSNAT 0 1 0 0 1
HHAT 0 0 1 0 1
HIBCH 0 1 0 0 1
HIVEP2 1 0 0 0 1
HJV 0 1 0 0 1
HMBS 1 0 0 0 1
HMGCL 1 0 0 0 1
HOXA1 0 1 0 0 1
HOXD13 1 0 0 0 1
HPS1 1 0 0 0 1
HPS3 0 1 0 0 1
HS2ST1 0 0 1 0 1
HSD17B3, SLC35D2-HSD17B3 0 1 0 0 1
HSPG2 0 0 1 0 1
HTRA1 0 1 0 0 1
HYDIN 0 0 1 0 1
IDS, LOC106050102 1 0 0 0 1
IFITM5 1 0 0 0 1
IFITM5, PGGHG 1 0 0 0 1
IFT52 1 0 0 0 1
IFT81 0 0 1 0 1
IL12RB1 1 0 0 0 1
IL1RN 0 1 0 0 1
IL21R 1 0 0 0 1
IL2RG 1 0 0 0 1
IL36RN 1 0 0 0 1
INS, INS-IGF2 0 1 0 0 1
IQSEC2 1 0 0 0 1
IRAK4 0 0 1 0 1
ISCA1 1 1 0 0 1
ITGA3 0 1 0 0 1
ITPA 0 1 0 0 1
ITPR1, LOC126806590 0 1 0 0 1
IVD 1 0 0 0 1
JAK3 0 1 0 0 1
KAT6B 0 1 0 0 1
KCNJ10 1 0 0 0 1
KCNJ11 1 0 0 0 1
KCNJ2 1 0 0 0 1
KCNK18 1 0 0 0 1
KDM4B 0 0 1 0 1
KDM6A 0 0 1 0 1
KDM6B 0 1 0 0 1
KIF11 0 0 1 0 1
KIF1A 0 1 0 0 1
KIF26A 0 0 0 1 1
KLHL7 0 0 1 0 1
KMT2B 0 0 1 0 1
KRAS 1 0 0 0 1
KRT14 1 0 0 0 1
KRT6A 0 1 0 0 1
L1CAM 0 1 0 0 1
L2HGDH 0 0 1 0 1
LALTOP, TPO 0 1 0 0 1
LAMA3 1 0 0 0 1
LAMB3 0 1 0 0 1
LCAT, SLC12A4 0 0 1 0 1
LDLR 1 0 0 0 1
LEMD3 0 1 0 0 1
LGI3 0 0 1 0 1
LINS1 0 1 0 0 1
LIPA 1 0 0 0 1
LMOD3 1 0 0 0 1
LMX1B 1 0 0 0 1
LNCR-SMAL, LOC126859871, PRKN 0 1 0 0 1
LOC107303340, VHL 0 1 0 0 1
LOC113875037, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PUDP, STS 1 0 0 0 1
LOC123038185, SLCO2A1 0 0 1 0 1
LOC125446275, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, MBTPS2, PHEX, SMPX, SMS, YY2 1 0 0 0 1
LOC126806305, LOC126806306, MALL, NPHP1 1 0 0 0 1
LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 1
LOC126806462, SATB2 0 0 1 0 1
LOC126861318, MMP13 1 0 0 0 1
LOC126862902, RYR1 0 1 0 0 1
LOC126862983, MGME1 1 0 0 0 1
LOC129992585, SGCB 1 0 0 0 1
LOC129993110, RAB33B 1 0 0 0 1
LOC129994183, LOC129994184, MEF2C 1 0 0 0 1
LOC129996517, POLR1C 0 0 1 0 1
LOC129998145, LOC129998146, LOC129998147, SNX10 0 0 1 0 1
LOC130007006, ROBO3 0 1 0 0 1
LOC130009585, UFM1 1 0 0 0 1
LOC130055497, NFKBIA 1 0 0 0 1
LOC130059891, SERPINF1 0 0 1 0 1
LOC130059892, SERPINF1 1 0 0 0 1
LOC130064190, UBA2 1 0 0 0 1
LOC130065345, PANK2 0 1 0 0 1
LOC130067862, SCO2, TYMP 1 0 0 0 1
LRP5 1 0 0 0 1
LRRC45 1 0 0 0 1
LRSAM1 0 0 1 0 1
LYRM7 1 0 0 0 1
MAGEL2 0 1 0 0 1
MAN2B1 1 0 0 0 1
MAP2K1 0 1 0 0 1
MAP3K7 1 0 0 0 1
MAPKBP1 1 0 0 0 1
MBOAT7 0 1 0 0 1
MC1R 0 0 1 0 1
MC4R 1 0 0 0 1
MED12 0 1 0 0 1
MED13L 1 0 0 0 1
MEF2C 0 1 0 0 1
MEFV 1 0 0 0 1
MEGF8 0 0 1 0 1
MEIS2 0 1 0 0 1
METTL23 0 1 0 0 1
MFSD8 1 0 0 0 1
MINPP1 0 0 1 0 1
MIR1287, PYROXD2 0 0 1 0 1
MMAA 1 0 0 0 1
MMACHC 1 0 0 0 1
MMADHC 1 0 0 0 1
MOCS2 0 1 0 0 1
MPDU1 0 0 1 0 1
MPLKIP 1 0 0 0 1
MSH2 1 0 0 0 1
MT-ND4 1 0 0 0 1
MTM1 0 1 0 0 1
MTSS2 0 1 0 0 1
MTTP 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYO5A 0 0 1 0 1
MYOD1 1 0 0 0 1
MYPN 0 0 1 0 1
NANS, TRIM14 0 1 0 0 1
NAV3 0 1 0 0 1
NAXD 1 0 0 0 1
NAXE 1 0 0 0 1
NBAS 0 0 1 0 1
NCAPH2, SCO2 1 0 0 0 1
NCF2 1 0 0 0 1
NCF4 0 0 1 0 1
NCSTN 0 1 0 0 1
NDUFAF2 0 0 1 0 1
NDUFV2 0 0 1 0 1
NEB 1 0 0 0 1
NECTIN4 0 0 1 0 1
NFATC2 0 0 1 0 1
NFIX 1 0 0 0 1
NFKB1 0 0 1 0 1
NKX6-2 1 0 0 0 1
NLRP12 0 0 1 0 1
NLRP3 0 0 1 0 1
NOG 0 0 1 0 1
NOTCH1 1 0 0 0 1
NOTCH3 1 0 0 0 1
NPHP1 0 0 1 0 1
NPHS1 1 0 0 0 1
NPR2, SPAG8 1 0 0 0 1
NRXN1 1 0 0 0 1
NTRK1 0 1 0 0 1
NUP214 0 0 1 0 1
OCRL 0 1 0 0 1
ODAD1 1 0 0 0 1
OPA3 0 0 1 0 1
OPHN1 0 0 1 0 1
OTOG 1 0 0 0 1
OTX2 0 1 0 0 1
P3H2 1 0 0 0 1
PACS1 1 0 0 0 1
PAX2 0 0 1 0 1
PAX6 0 0 1 0 1
PCCB 0 1 0 0 1
PCDH12, RNF14 1 0 0 0 1
PDHA1 1 0 0 0 1
PDHX 0 0 1 0 1
PEPD 0 1 0 0 1
PERCC1 0 0 1 0 1
PEX16 0 0 1 0 1
PEX26 1 0 0 0 1
PEX3 0 1 0 0 1
PEX6 0 1 0 0 1
PGAP3 0 1 0 0 1
PHC1 1 0 0 0 1
PHKB 1 0 0 0 1
PIEZO2 1 0 0 0 1
PISD 0 1 0 0 1
PLA2G6 1 0 0 0 1
PLAA 0 1 0 0 1
PMM2 1 0 0 0 1
PMVK 0 0 1 0 1
PNKP 1 0 0 0 1
PNPLA1 0 1 0 0 1
PNPLA8 1 0 0 0 1
PNPT1 0 1 0 0 1
POP1 0 1 0 0 1
POR 0 1 0 0 1
PORCN 0 1 0 0 1
POU4F3, RBM27-POU4F3 0 0 1 0 1
PPT1 0 1 0 0 1
PRDM12 1 0 0 0 1
PRDM5 1 0 0 0 1
PRKACA 0 1 0 0 1
PRMT7 0 1 0 0 1
PROC 0 0 1 0 1
PTCH1 0 1 0 0 1
PTDSS1 1 0 0 0 1
PTH 0 1 0 0 1
PTH2R 0 1 0 0 1
PTPN11 1 0 0 0 1
PTRH2 0 1 0 0 1
PUM1 1 0 0 0 1
PURA 1 0 0 0 1
PUS1 1 0 0 0 1
PYCR1 1 0 0 0 1
PYGL 1 0 0 0 1
QRICH1 1 0 0 0 1
RAB18 1 0 0 0 1
RAB27A 1 0 0 0 1
RAB3GAP1 0 1 0 0 1
RAG1 0 1 0 0 1
RAPSN 1 0 0 0 1
RARS2 0 1 0 0 1
RB1 1 0 0 0 1
RERE 0 1 0 0 1
RET 1 0 0 0 1
RETREG1 0 0 1 0 1
RHOBTB2 0 0 1 0 1
RIT1 1 0 0 0 1
RMP64 1 0 0 0 1
RNF216 1 0 0 0 1
RNF43 0 1 0 0 1
RNH1 0 0 1 0 1
RNU2-2 0 1 0 0 1
RPIA 0 1 0 0 1
RPL3L 1 0 0 0 1
RPS6KA3 1 0 0 0 1
RSPO2 0 1 0 0 1
RSPRY1 0 0 1 0 1
RTTN 0 0 1 0 1
RUNX2 1 0 0 0 1
SACS 1 0 0 0 1
SAMHD1 0 0 1 0 1
SCN1A 1 0 0 0 1
SCN9A 1 0 0 0 1
SCUBE3 0 1 0 0 1
SCYL2 0 0 1 0 1
SERAC1 1 0 0 0 1
SETD1B 0 1 0 0 1
SETD5 1 0 0 0 1
SFRP4 1 0 0 0 1
SFTPC 0 1 0 0 1
SH2B3 0 0 1 0 1
SHMT2 0 1 0 0 1
SKI 0 1 0 0 1
SKIC3 0 1 0 0 1
SLC1A4 0 0 1 0 1
SLC22A5 0 0 1 0 1
SLC25A12 0 0 1 0 1
SLC26A2 0 1 0 0 1
SLC29A3 0 1 0 0 1
SLC2A2 0 1 0 0 1
SLC34A3 1 0 0 0 1
SLC38A8 0 1 0 0 1
SLC39A4 1 0 0 0 1
SLC5A2 0 0 1 0 1
SLC6A5 0 0 1 0 1
SMARCA4 0 1 0 0 1
SMARCD1 1 0 0 0 1
SNAP29 0 1 0 0 1
SOS1 1 0 0 0 1
SOX11 0 1 0 0 1
SPAST 0 1 0 0 1
SPR 0 1 0 0 1
SPTB 0 1 0 0 1
SPTBN2 0 1 0 0 1
SQSTM1 1 0 0 0 1
STRA6 0 1 0 0 1
STXBP2 0 0 1 0 1
SUOX 1 0 0 0 1
SVBP 0 1 0 0 1
TAF1A 0 0 1 0 1
TAMM41 0 1 0 0 1
TBC1D24 0 1 0 0 1
TBC1D32 0 1 0 0 1
TBCD 0 1 0 0 1
TBXAS1 0 1 0 0 1
TCF12 0 1 0 0 1
TCF4 0 1 0 0 1
TCN2 1 0 0 0 1
TGFB1 1 0 0 0 1
THOC6 0 1 0 0 1
TJP2 1 0 0 0 1
TMEM147 1 0 0 0 1
TMEM163 0 1 0 0 1
TMEM216 0 1 0 0 1
TMEM94 0 0 1 0 1
TNFAIP3 0 1 0 0 1
TNFRSF1A 1 0 0 0 1
TOMM7 0 0 1 0 1
TP53 1 0 0 0 1
TP63 0 1 0 0 1
TPCN2 0 0 1 0 1
TPK1 0 0 1 0 1
TPM3 0 1 0 0 1
TPRKB 0 0 1 0 1
TRAPPC10 0 0 1 0 1
TRAPPC6B 0 1 0 0 1
TRAPPC9 1 0 0 0 1
TRIP4 1 0 0 0 1
TRMT10A 1 0 0 0 1
TRPS1 0 1 0 0 1
TRRAP 0 0 1 0 1
TSC1 1 0 0 0 1
TSPAN7 0 1 0 0 1
TSPOAP1 0 1 0 0 1
TUBB2A 0 1 0 0 1
TUBB3 1 0 0 0 1
TUBG1 0 1 0 0 1
TXNDC15 1 0 0 0 1
TYR 0 0 1 0 1
U2AF2 1 0 0 0 1
UGDH 0 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 1
UMOD 0 0 1 0 1
UNC13D 0 1 0 0 1
USH1C 0 1 0 0 1
USP53 0 1 0 0 1
VAC14 0 0 1 0 1
VCP 0 1 0 0 1
VPS13A 0 0 1 0 1
VPS51 0 0 1 0 1
VPS53 0 0 1 0 1
VRK1 1 0 0 0 1
WAS 1 0 0 0 1
WASF1 1 0 0 0 1
WDR1 0 0 1 0 1
WDR62 0 1 0 0 1
WDR73 1 0 0 0 1
WNT1 1 0 0 0 1
WT1 0 1 0 0 1
WWOX 0 0 1 0 1
XDH 0 0 1 0 1
XRCC4 0 0 1 0 1
ZBTB24 1 0 0 0 1
ZC4H2 0 1 0 0 1
ZMYM2 1 0 0 0 1
ZMYND10 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 912
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association total
Marfan syndrome 5 14 1 0 20
Mucopolysaccharidosis, MPS-IV-A 6 6 1 0 13
Familial X-linked hypophosphatemic vitamin D refractory rickets 10 2 0 0 12
Ataxia-telangiectasia syndrome 8 1 2 0 11
Spondylocarpotarsal synostosis syndrome 5 5 1 0 11
Infantile GM1 gangliosidosis 7 2 1 0 10
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2 8 0 0 10
Galactosylceramide beta-galactosidase deficiency 3 4 1 0 8
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 7 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2A 4 3 0 0 7
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 5 1 1 0 7
Duchenne muscular dystrophy 7 0 0 0 7
Metachromatic leukodystrophy 5 2 0 0 7
Mucopolysaccharidosis, MPS-II 5 2 0 0 7
Tay-Sachs disease 4 3 0 0 7
Achondroplasia 2 4 0 0 6
Familial hypokalemia-hypomagnesemia 3 3 0 0 6
Multicentric osteolysis nodulosis arthropathy spectrum 4 1 1 0 6
Osteogenesis imperfecta type 6 3 1 2 0 6
Osteogenesis imperfecta type I 2 4 0 0 6
Polycystic kidney disease, adult type 3 2 1 0 6
Sponastrime dysplasia 1 0 5 0 6
Acromesomelic dysplasia 1, Maroteaux type 2 2 1 0 5
Autosomal recessive nonsyndromic hearing loss 1A 5 0 0 0 5
Biotinidase deficiency 2 3 0 0 5
Cystic fibrosis 5 0 0 0 5
Loeys-Dietz syndrome 2 0 5 0 0 5
Merosin deficient congenital muscular dystrophy 4 0 1 0 5
Metaphyseal chondrodysplasia, Schmid type 4 1 0 0 5
Mucolipidosis type II 3 1 1 0 5
Nephronophthisis 1 4 0 1 0 5
Neurofibromatosis, type 1 4 1 0 0 5
Pyknodysostosis 3 1 1 0 5
Rett syndrome 3 2 0 0 5
Rubinstein-Taybi syndrome due to CREBBP mutations 4 1 0 0 5
Vanishing white matter disease 1 3 1 0 5
Alexander disease 2 2 0 0 4
Alport syndrome 3b, autosomal recessive 3 0 1 0 4
Arginase deficiency 1 1 2 0 4
Arthrogryposis, renal dysfunction, and cholestasis 1 1 2 1 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 2 0 0 4
Bartter disease type 3 3 1 1 0 4
Bethlem myopathy 1A 3 1 0 0 4
Biotin-responsive basal ganglia disease 2 1 1 0 4
Cholestanol storage disease 2 2 0 0 4
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 4 0 0 4
FOXG1 disorder 3 1 0 0 4
Fanconi anemia complementation group A 2 2 0 0 4
Glutaric aciduria, type 1 3 1 0 0 4
Glycogen storage disease type III 3 0 1 0 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2 2 0 0 4
Hyperimmunoglobulin D with periodic fever 1 2 1 0 4
Hypochondroplasia 2 2 0 0 4
Hypomyelinating leukodystrophy 2 3 0 1 0 4
Laron-type isolated somatotropin defect 2 1 1 0 4
Netherton syndrome 2 0 2 0 4
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 4 0 4
Perrault syndrome 1 1 3 0 0 4
Progressive myoclonic epilepsy type 3 1 2 1 0 4
Spondyloepiphyseal dysplasia congenita 1 1 2 0 4
Syndromic X-linked intellectual disability Claes-Jensen type 2 2 0 0 4
Tuberous sclerosis 2 4 0 0 0 4
Tyrosinase-positive oculocutaneous albinism 1 3 0 0 4
Waardenburg syndrome type 1 2 2 0 0 4
Waardenburg syndrome type 4A 1 1 2 0 4
3M syndrome 2 2 0 1 0 3
Alkaptonuria 1 1 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2E 2 0 1 0 3
Autosomal recessive osteopetrosis 7 1 1 1 0 3
Bilateral frontoparietal polymicrogyria 1 2 0 0 3
CHARGE syndrome 3 0 0 0 3
Ceroid lipofuscinosis, neuronal, 6A 0 3 0 0 3
Cohen syndrome 2 1 0 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 3 0 3
Congenital multicore myopathy with external ophthalmoplegia 0 2 1 0 3
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 3 0 0 3
Cornelia de Lange syndrome 1 1 2 0 0 3
Deficiency of acetyl-CoA acetyltransferase 2 1 0 0 3
Deficiency of adenosine deaminase 2 2 1 0 0 3
Developmental and epileptic encephalopathy, 11 2 0 1 0 3
Developmental and epileptic encephalopathy, 14 2 1 0 0 3
Developmental and epileptic encephalopathy, 25 1 1 1 0 3
Developmental and epileptic encephalopathy, 4 1 1 1 0 3
Dyggve-Melchior-Clausen syndrome 3 0 0 0 3
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 1 0 2 0 3
Ellis-van Creveld syndrome 3 0 0 0 3
Epidermolysis bullosa pruriginosa 1 1 1 0 3
GNE myopathy 0 2 1 0 3
Hurler syndrome 1 2 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 0 3
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 2 0 3
Hypomyelinating leukodystrophy 11 1 1 1 0 3
Infantile nephronophthisis 2 0 1 0 3
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 3 0 0 0 3
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 1 1 0 3
Intellectual disability, autosomal dominant 22 1 2 0 0 3
KBG syndrome 2 1 0 0 3
Koolen-de Vries syndrome 2 1 0 0 3
Meckel syndrome, type 4 1 2 0 0 3
Megalencephalic leukoencephalopathy with subcortical cysts 1 3 0 0 0 3
Menkes kinky-hair syndrome 3 0 0 0 3
Microcephalic osteodysplastic primordial dwarfism type II 3 0 0 0 3
Mitochondrial complex I deficiency, nuclear type 4 2 1 0 0 3
Mitochondrial complex IV deficiency, nuclear type 1 1 1 1 0 3
Mucopolysaccharidosis, MPS-III-B 1 2 0 0 3
Multiple epiphyseal dysplasia type 1 3 0 0 0 3
Neuronal ceroid lipofuscinosis 2 2 1 0 0 3
Osteogenesis imperfecta, perinatal lethal 2 1 0 0 3
Pigmentary pallidal degeneration 0 2 1 0 3
Primary hyperoxaluria, type I 3 0 0 0 3
Propionic acidemia 0 3 0 0 3
Pseudohypoparathyroidism type I A 2 1 0 0 3
Pyridoxine-dependent epilepsy 2 1 0 0 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 3 0 0 0 3
Severe intellectual disability-progressive spastic diplegia syndrome 3 0 0 0 3
Short-rib thoracic dysplasia 6 with or without polydactyly 2 1 0 0 3
Sialidosis type 2 1 1 1 0 3
Smith-McCort dysplasia 2 1 1 1 0 3
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 1 1 0 3
Wiedemann-Steiner syndrome 3 0 0 0 3
Wilson disease 2 1 0 0 3
Xeroderma pigmentosum group A 2 1 0 0 3
3-methylglutaconic aciduria type 1 1 1 0 0 2
46,XY sex reversal 3 0 2 0 0 2
Achondrogenesis type II 0 1 1 0 2
Acromesomelic dysplasia 3 0 0 2 0 2
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 2 0 0 2
Acute myeloid leukemia 1 0 1 0 2
Aicardi-Goutieres syndrome 1 0 1 1 0 2
Aicardi-Goutieres syndrome 3 1 0 1 0 2
Asphyxiating thoracic dystrophy 3 1 0 1 0 2
Atransferrinemia 0 1 1 0 2
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 0 2 0 2
Autosomal recessive Alport syndrome 1 0 1 0 2
Autosomal recessive congenital ichthyosis 4B 1 1 0 0 2
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 0 2 0 2
Autosomal recessive osteopetrosis 1 2 0 0 0 2
Autosomal recessive osteopetrosis 4 1 1 0 0 2
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 2 0 2
Autosomal recessive spinocerebellar ataxia 20 1 0 1 0 2
Bardet-Biedl syndrome 8 1 0 1 0 2
Basal cell nevus syndrome 1 1 1 0 0 2
Beta-thalassemia major 2 0 0 0 2
Blau syndrome 1 1 0 0 2
C1Q deficiency 1 1 0 0 2
CODAS syndrome 0 0 2 0 2
Charcot-Marie-Tooth disease type 4G 1 1 0 0 2
Chondrodysplasia punctata 2 X-linked dominant 1 1 0 0 2
Citrullinemia type I 1 1 0 0 2
Cockayne syndrome type 1 1 1 0 0 2
Combined immunodeficiency due to DOCK8 deficiency 0 2 0 0 2
Combined malonic and methylmalonic acidemia 0 1 1 0 2
Combined oxidative phosphorylation deficiency 36 0 2 0 0 2
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 1 0 0 2
Congenital diarrhea 7 with exudative enteropathy 1 1 0 0 2
Congenital myasthenic syndrome 8 0 0 2 0 2
Congenital myotonia, autosomal recessive form 0 2 0 0 2
Cutis laxa, autosomal recessive, type 1B 0 2 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 1 0 0 2
Developmental and epileptic encephalopathy 6B 1 1 0 0 2
Developmental and epileptic encephalopathy, 42 0 2 0 0 2
Developmental and epileptic encephalopathy, 47 1 1 0 0 2
Developmental and epileptic encephalopathy, 78 1 0 1 0 2
Distal arthrogryposis type 5D 1 1 0 0 2
Dyskeratosis congenita, X-linked 1 1 0 0 2
Eiken syndrome 0 0 2 0 2
Enchondromatosis 2 0 0 0 2
Fanconi anemia complementation group L 2 0 0 0 2
Fanconi anemia, complementation group S 0 0 2 0 2
Fucosidosis 2 0 0 0 2
GM1 gangliosidosis type 3 2 0 0 0 2
Gaucher disease type II 1 1 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 2 0 0 0 2
Gilbert syndrome 2 0 0 0 2
Glucose-6-phosphate transport defect 2 0 0 0 2
Glycine encephalopathy 1 0 0 2 0 2
Glycogen storage disease IXa1 1 1 0 0 2
Glycogen storage disease IXc 1 1 0 0 2
Glycogen storage disease, type IV 1 1 0 0 2
Glycogen storage disease, type V 1 1 0 0 2
Gorlin syndrome 2 0 0 0 2
Hemoglobin E/beta- thalassemia 2 0 0 0 2
Hereditary spastic paraplegia 11 2 0 0 0 2
Hereditary spastic paraplegia 56 1 1 0 0 2
Hyperlipoproteinemia, type I 2 0 0 0 2
Hypertrophic cardiomyopathy 1 2 0 0 0 2
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 2 0 0 0 2
Hypomyelinating leukodystrophy 6 1 1 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 1 0 0 2
Hypotrichosis 8 2 0 0 0 2
Intellectual developmental disorder 62 1 1 0 0 2
Intellectual disability, X-linked 102 1 1 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 0 2 0 0 2
Intellectual disability, autosomal recessive 53 0 1 1 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 1 0 0 2
Intestinal hypomagnesemia 1 1 0 1 0 2
Juvenile arthritis due to defect in LACC1 0 1 1 0 2
Kabuki syndrome 1 0 2 0 0 2
Kniest dysplasia 1 1 0 0 2
Larsen syndrome 2 0 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 2 0 0 2
Lissencephaly due to TUBA1A mutation 0 2 0 0 2
Loeys-Dietz syndrome 1 0 2 0 0 2
Lymphatic malformation 6 0 1 1 0 2
Majeed syndrome 0 1 1 0 2
Meckel syndrome, type 6 0 2 0 0 2
Metatropic dysplasia 1 1 0 0 2
Methylmalonic aciduria, cblB type 0 2 0 0 2
Microcephaly 5, primary, autosomal recessive 2 0 0 0 2
Mild hyperphenylalaninemia 0 0 2 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 2 0 0 2
Mitochondrial complex 2 deficiency, nuclear type 4 0 1 1 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 1 1 0 2
Mucolipidosis type IV 0 0 2 0 2
Multiple acyl-CoA dehydrogenase deficiency 0 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 2 0 0 2
Myasthenic syndrome, congenital, 24, presynaptic 0 0 2 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome 1 1 0 0 2
Neurodegeneration with brain iron accumulation 5 1 0 1 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2 0 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 2 0 2
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 0 2 0 2
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 1 0 0 2
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 1 0 1 0 2
Nicolaides-Baraitser syndrome 0 1 1 0 2
Niemann-Pick disease, type C2 1 1 0 0 2
Noonan syndrome 7 1 1 0 0 2
Osteogenesis imperfecta 0 1 1 0 2
Osteogenesis imperfecta type 15 1 1 0 0 2
Osteogenesis imperfecta type 5 2 0 0 0 2
Osteogenesis imperfecta type 8 1 1 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 0 0 2
Osteosclerotic metaphyseal dysplasia 2 0 0 0 2
Peeling skin syndrome 1 2 0 0 0 2
Perrault syndrome 3 1 1 0 0 2
Phenylketonuria 1 1 0 0 2
Polycystic kidney disease 4 0 0 2 0 2
Pontocerebellar hypoplasia type 9 0 2 0 0 2
Primary hyperoxaluria, type II 2 0 0 0 2
Progressive familial intrahepatic cholestasis type 2 1 0 1 0 2
Progressive pseudorheumatoid dysplasia 0 2 0 0 2
Pseudo-Hurler polydystrophy 2 0 0 0 2
Pseudo-TORCH syndrome 1 2 0 0 0 2
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2 0 0 0 2
Rafiq syndrome 2 0 0 0 2
Recessive dystrophic epidermolysis bullosa 2 0 0 0 2
Sandhoff disease 0 0 2 0 2
Senior-Loken syndrome 5 2 0 0 0 2
Sotos syndrome 1 1 0 0 2
Sphingolipid activator protein 1 deficiency 1 1 0 0 2
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 1 1 0 0 2
Spondyloepimetaphyseal dysplasia, Strudwick type 1 1 0 0 2
Spondyloepiphyseal dysplasia tarda, X-linked 2 0 0 0 2
Spondylometaphyseal dysplasia, Kozlowski type 2 0 0 0 2
Spongy degeneration of central nervous system 1 1 0 0 2
Steel syndrome 0 0 2 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 1 1 0 0 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 2 0 0 2
Thyroid dyshormonogenesis 6 0 0 2 0 2
Tooth agenesis, selective, 10 1 1 0 0 2
Upshaw-Schulman syndrome 0 2 0 0 2
Vitamin D-dependent rickets type II with alopecia 1 1 0 0 2
Vitamin D-dependent rickets, type 1A 1 0 1 0 2
Waardenburg syndrome type 2A 2 0 0 0 2
Waardenburg syndrome type 2E 1 0 1 0 2
X-linked Alport syndrome 2 0 0 0 2
X-linked intellectual disability, Cantagrel type 1 1 0 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome 2 0 0 0 2
Xeroderma pigmentosum, group C 2 0 0 0 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 0 1 0 0 1
3-Methylglutaconic aciduria type 3 0 0 1 0 1
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
ACCES syndrome 1 0 0 0 1
ACTA1-related congenital myopathy disorders 0 0 1 0 1
AGO1-related neurodevelopmental disorder 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 0 1
ALG11-congenital disorder of glycosylation 0 1 0 0 1
ALG12-congenital disorder of glycosylation 0 0 1 0 1
ALS2-related disorder 0 1 0 0 1
Abetalipoproteinaemia 0 0 1 0 1
Achondrogenesis, type IA 1 0 0 0 1
Acid sphingomyelinase deficiency 1 0 0 0 1
Acne inversa, familial, 1 0 1 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 1 0 0 0 1
Acute intermittent porphyria 1 0 0 0 1
Adams-Oliver syndrome 5 1 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Agammaglobulinemia 3, autosomal recessive 0 0 1 0 1
Aicardi-Goutieres syndrome 5 0 0 1 0 1
Amyloidosis, primary localized cutaneous, 3 1 0 0 0 1
Anauxetic dysplasia 2 0 1 0 0 1
Anauxetic dysplasia 3 1 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 1
Angelman syndrome 1 0 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 1 0 0 1
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 0 1
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 0 1 0 1
Arthrogryposis, distal, type 2B3 0 1 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 1 0 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 1 0 0 1
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 1
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 4 1 0 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 0 0 1
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 0 0 1 0 1
Autosomal dominant centronuclear myopathy; Arthrogryposis multiplex congenita 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 1 0 0 1
Autosomal dominant distal renal tubular acidosis 1 0 0 0 1
Autosomal dominant hypophosphatemic rickets 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 1
Autosomal dominant osteopetrosis 2 0 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 1 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 18B 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 1 0 0 0 1
Autosomal recessive osteopetrosis 8 0 0 1 0 1
Autosomal recessive spastic paraplegia type 78 1 0 0 0 1
Autosomal systemic lupus erythematosus type 16 1 0 0 0 1
BCL11B-related disorder 0 1 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Bardet-Biedl syndrome 2 0 0 1 0 1
Bethlem myopathy 1B 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 1
Bloom syndrome 0 1 0 0 1
Bohring-Opitz syndrome 1 0 0 0 1
Bone osteosarcoma 0 1 0 0 1
Brachydactyly type A1 0 1 0 0 1
Brachydactyly type A1A 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 1
Brittle cornea syndrome 2 1 0 0 0 1
C1Q deficiency 1 1 0 0 0 1
CARASIL syndrome 0 1 0 0 1
CEDNIK syndrome 0 1 0 0 1
COG5-congenital disorder of glycosylation 0 0 1 0 1
COG8-congenital disorder of glycosylation 1 0 0 0 1
COL4A2-related neurological disorder 0 0 1 0 1
CTCF-related neurodevelopmental disorder 0 1 0 0 1
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cardioacrofacial dysplasia 1 0 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 0 1
Cardiomyopathy, dilated, 2D 1 0 0 0 1
Cardiospondylocarpofacial syndrome 1 0 0 0 1
Cataract 48 0 1 0 0 1
Central core myopathy 0 1 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 1 0 0 0 1
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 2Y 0 1 0 0 1
Charcot-Marie-Tooth disease type 4K 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 0 1 0 1
Cholestasis, progressive familial intrahepatic, 4 1 0 0 0 1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 1 0 0 1
Chondrodysplasia-pseudohermaphroditism syndrome 0 0 1 0 1
Chondrosarcoma 0 1 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 1
Chromosome 13q33-q34 deletion syndrome 1 0 0 0 1
Chromosome 16p11.2 duplication syndrome 1 0 0 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 1
Chromosome 1q21.1 deletion syndrome 1 0 0 0 1
Chromosome 2p16.3 deletion syndrome 1 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 0 1
Cleidocranial dysostosis 1 0 0 0 1
Cobalamin C disease 1 0 0 0 1
Cockayne syndrome type 2 1 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Coffin-Siris syndrome 11 1 0 0 0 1
Coloboma, ocular, autosomal dominant 0 0 1 0 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 1 0 0 1
Combined PSAP deficiency 0 0 1 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 1
Combined oxidative phosphorylation defect type 13 0 1 0 0 1
Combined oxidative phosphorylation deficiency 44 0 1 0 0 1
Combined oxidative phosphorylation deficiency 56 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 0 1
Congenital afibrinogenemia 1 0 0 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1 0 1
Congenital contractural arachnodactyly 0 1 0 0 1
Congenital disorder of glycosylation, type iit 0 1 0 0 1
Congenital factor V deficiency 1 0 0 0 1
Congenital hyperammonemia, type I 0 1 0 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 1 0 0 0 1
Congenital myasthenic syndrome 10 1 0 0 0 1
Congenital myasthenic syndrome 11 1 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 1
Congenital myopathy 4A, autosomal dominant 0 1 0 0 1
Congenital nonspherocytic hemolytic anemia 0 1 0 0 1
Congenital sensorineural hearing impairment 1 0 0 0 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 9 0 1 0 0 1
Cortical dysplasia-focal epilepsy syndrome 0 1 0 0 1
Cryopyrin associated periodic syndrome 0 0 1 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 1 0 0 0 1
Curry-Hall syndrome 0 1 0 0 1
Cutis laxa, X-linked 0 0 1 0 1
Cyclical neutropenia 0 1 0 0 1
DAP3-related disorder 0 1 0 0 1
DPAGT1-congenital disorder of glycosylation 0 0 1 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 0 1
Deficiency of cytochrome-b5 reductase 0 1 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 1
Deficiency of iodide peroxidase 0 1 0 0 1
Deficiency of ribose-5-phosphate isomerase 0 1 0 0 1
Deficiency of steroid 11-beta-monooxygenase 0 1 0 0 1
Deficiency of steroid 17-alpha-monooxygenase 0 1 0 0 1
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 0 1 0 0 1
Desbuquois dysplasia 1 0 0 1 0 1
Developmental and epileptic encephalopathy 1 0 0 0 1
Developmental and epileptic encephalopathy 106 0 1 0 0 1
Developmental and epileptic encephalopathy 119 0 1 0 0 1
Developmental and epileptic encephalopathy, 16 0 1 0 0 1
Developmental and epileptic encephalopathy, 17 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 1
Developmental and epileptic encephalopathy, 23 1 0 0 0 1
Developmental and epileptic encephalopathy, 27 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 1
Developmental and epileptic encephalopathy, 31A 0 1 0 0 1
Developmental and epileptic encephalopathy, 35 0 1 0 0 1
Developmental and epileptic encephalopathy, 38 1 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 1 0 1
Developmental and epileptic encephalopathy, 48 1 0 0 0 1
Developmental and epileptic encephalopathy, 65 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 0 1
Developmental and epileptic encephalopathy, 81 0 0 1 0 1
Developmental and epileptic encephalopathy, 84 0 1 0 0 1
Developmental and epileptic encephalopathy, 90 0 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 1
Developmental delay, dysmorphic facies, and brain anomalies 1 0 0 0 1
Developmental delay, hypotonia, and impaired language 0 1 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 1
Diabetes mellitus, permanent neonatal 4 0 1 0 0 1
Diaphanospondylodysostosis 0 0 1 0 1
Diaphyseal dysplasia 1 0 0 0 1
Diarrhea 11, malabsorptive, congenital 0 0 1 0 1
Dias-Logan syndrome 1 0 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 0 0 1
Distal renal tubular acidosis 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 1 0 0 1
Dystonia 22, juvenile-onset 0 1 0 0 1
EAST syndrome 1 0 0 0 1
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 1 0 0 1
Ectodermal dysplasia and immunodeficiency 2 1 0 0 0 1
Ectodermal dysplasia-syndactyly syndrome 1 0 0 1 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 1
Encephalitis, acute, infection-induced, susceptibility to, 12 0 0 1 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 1 0 0 0 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 1 0 0 0 1
Epidermolysis bullosa simplex 5C, with pyloric atresia 1 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 0 1 0 0 1
Epidermolysis bullosa, junctional 2B, severe 1 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 1 0 0 0 1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 1 0 0 1
Episodic ataxia type 2 1 0 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 1
Exostoses, multiple, type 1 0 1 0 0 1
FGFR2-related craniosynostosis 1 0 0 0 1
FRAXE 0 1 0 0 1
Fabry disease 0 0 1 0 1
Factor I deficiency 0 1 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 3 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 0 0 1 0 1
Familial infantile myasthenia 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 0 1 0 1
Familial medullary thyroid carcinoma 1 0 0 0 1
Familial myelofibrosis 0 0 1 0 1
Familial renal glucosuria 0 0 1 0 1
Fanconi anemia complementation group D1 0 1 0 0 1
Fanconi anemia complementation group J 0 0 1 0 1
Fanconi-Bickel syndrome 0 1 0 0 1
Fatal multiple mitochondrial dysfunctions syndrome 1 0 0 0 1
Filippi syndrome 1 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Focal dermal hypoplasia 0 1 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 1 0 0 1
Foveal hypoplasia 3 0 1 0 0 1
Fraser syndrome 1 1 0 0 0 1
Fructose-biphosphatase deficiency 0 1 0 0 1
GNPTG-mucolipidosis 0 1 0 0 1
GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 1 0 0 1
Galloway-Mowat syndrome 1 1 0 0 0 1
Galloway-Mowat syndrome 5 0 0 1 0 1
Gaucher disease type I 1 0 0 0 1
Gaucher disease type III 1 0 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 1 0 0 1
Geleophysic dysplasia 1 1 0 0 0 1
Geleophysic dysplasia 2 1 0 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 0 1
Ghosal hematodiaphyseal dysplasia 0 1 0 0 1
Global developmental delay 1 0 0 0 1
Glycine encephalopathy 0 1 0 0 1
Glycogen storage disease IXb 1 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 0 0 1 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 0 1 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 1
Griscelli syndrome type 1 0 0 1 0 1
Griscelli syndrome type 2 1 0 0 0 1
H syndrome 0 1 0 0 1
Hematuria, benign familial, 1 0 0 1 0 1
Hemochromatosis type 2A 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 0 1 0 0 1
Hereditary acrodermatitis enteropathica 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 1 0 0 1
Hereditary pancreatitis 0 0 1 0 1
Hereditary spastic paraplegia 0 0 0 1 1
Hereditary spastic paraplegia 2 1 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 1
Hereditary spastic paraplegia 43 0 1 0 0 1
Hereditary spastic paraplegia 47 1 0 0 0 1
Hereditary spastic paraplegia 50 0 1 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 1
Hereditary spastic paraplegia 54 0 1 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Hereditary xanthinuria type 1 0 0 1 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 1
Human HOXA1 syndromes 0 1 0 0 1
Hutchinson-Gilford syndrome 1 0 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 0 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 1
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 0 1 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 1
Hyperekplexia 3 0 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 2 1 0 0 0 1
Hyperlipidemia, familial combined, LPL related 1 0 0 0 1
Hyperlipoproteinemia, type 1D 0 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 1
Hypokalemic periodic paralysis, type 2 0 0 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 0 1
Hypoparathyroidism, familial isolated 1 0 1 0 0 1
Hypophosphatemic rickets 1 0 0 0 1
ITPR1-related disorders 0 1 0 0 1
Immunodeficiency 67 0 0 1 0 1
Immunodeficiency, common variable, 12 0 0 1 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 0 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 1
Infantile hypophosphatasia 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 1 0 0 1
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0 0 1 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 1 0 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Intellectual disability, X-linked 1 1 0 0 0 1
Intellectual disability, X-linked 58 0 1 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 1
Intellectual disability, X-linked 93 1 0 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 1
Intellectual disability, autosomal dominant 29 0 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 1 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 1
Intellectual disability, autosomal recessive 44 0 1 0 0 1
Intellectual disability, autosomal recessive 57 0 1 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 1
Isolated growth hormone deficiency, type 4 1 0 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 1 0 0 0 1
Joint contractures, osteochondromas, and B-cell lymphoma 0 0 1 0 1
Joubert syndrome 0 0 1 0 1
Joubert syndrome 17 1 0 0 0 1
Joubert syndrome 2 0 1 0 0 1
Joubert syndrome 3 1 0 0 0 1
Joubert syndrome 33 0 1 0 0 1
Joubert syndrome 36 0 0 1 0 1
Joubert syndrome 6 0 1 0 0 1
Joubert syndrome 9 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 1 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 1
KCNK18-related neurodevelopmental disorder 1 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 1
Kabuki syndrome 2 0 0 1 0 1
Keipert syndrome 0 1 0 0 1
Kindler syndrome 1 0 0 0 1
Knobloch syndrome 1 0 0 0 1
L-2-hydroxyglutaric aciduria 0 0 1 0 1
LRRC45 associated neurological ciliopathy 1 0 0 0 1
Landau-Kleffner syndrome 1 0 0 0 1
Lazy leukocyte syndrome 0 0 1 0 1
Leber optic atrophy 1 0 0 0 1
Leigh syndrome 0 1 0 0 1
Lenz-Majewski hyperostosis syndrome 1 0 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 1
Lethal congenital contracture syndrome 9 1 0 0 0 1
Lethal multiple pterygium syndrome 0 0 1 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 1
Leukodystrophy, hypomyelinating, 17 0 1 0 0 1
Leukodystrophy, hypomyelinating, 18 0 1 0 0 1
Leukodystrophy, hypomyelinating, 25 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 3 0 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Liberfarb syndrome 0 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 0 1
Lowe syndrome 0 1 0 0 1
Lymphatic malformation 3 0 0 1 0 1
Lynch syndrome 4 1 0 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 1
MASA syndrome 0 1 0 0 1
MEGF8-related Carpenter syndrome 0 0 1 0 1
MPDU1-congenital disorder of glycosylation 0 0 1 0 1
MYPN-related myopathy 0 0 1 0 1
Macrocephaly-autism syndrome 1 0 0 0 1
Maffucci syndrome 0 1 0 0 1
Mandibuloacral dysplasia with type A lipodystrophy 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 1
Maple syrup urine disease 0 1 0 0 1
Marshall-Smith syndrome 1 0 0 0 1
Matthew-Wood syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 11 0 0 1 0 1
Maturity-onset diabetes of the young type 14 0 0 1 0 1
Meckel syndrome, type 10 0 1 0 0 1
Meckel syndrome, type 3 0 1 0 0 1
Meckel-Gruber syndrome 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblD 1 0 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 1 0 1
Microcephaly 11, primary, autosomal recessive 1 0 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 1 0 1
Microcephaly, seizures, and developmental delay 1 0 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 1 0 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 1 0 0 1
Mismatch repair cancer syndrome 2 1 0 0 0 1
Mismatch repair cancer syndrome 4 1 0 0 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 1
Mitochondrial DNA depletion syndrome 11 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 10 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 7 0 0 1 0 1
Mitochondrial complex III deficiency nuclear type 8 1 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 1 0 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 1 0 0 1
Miyoshi muscular dystrophy 1 0 1 0 0 1
Mucopolysaccharidosis type 1 1 0 0 0 1
Mucopolysaccharidosis type 6 1 0 0 0 1
Mucopolysaccharidosis type 7 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-C 0 1 0 0 1
Multicentric osteolysis, nodulosis, and arthropathy 1 0 0 0 1
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 0 0 1
Multiple congenital exostosis 1 0 0 0 1
Multiple epiphyseal dysplasia type 4 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 5 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 0 0 1
Myopia, high, with cataract and vitreoretinal degeneration 1 0 0 0 1
NAD(P)HX dehydratase deficiency 1 0 0 0 1
NAV3-associated neurodevelopmental disorder 0 1 0 0 1
NLRP12-associated autoinflammatory disease 0 0 1 0 1
Nail-patella syndrome 1 0 0 0 1
Nemaline myopathy 10 1 0 0 0 1
Nemaline myopathy 2 1 0 0 0 1
Neonatal diabetes mellitus with congenital hypothyroidism 0 1 0 0 1
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 0 1 0 1
Neonatal severe primary hyperparathyroidism 0 0 1 0 1
Nephronophthisis 16 1 0 0 0 1
Nephronophthisis 20 1 0 0 0 1
Nephropathic cystinosis 0 0 1 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 0 1 0 0 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 1 0 0 0 1
Neurodevelopmental abnormality 0 0 1 0 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 0 1
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0 1 0 0 1
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 0 1 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 1 0 0 0 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 0 1 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 0 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 1 0 0 1
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 0 1
Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0 1 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 0 1
Neurofacioskeletal syndrome with or without renal agenesis 0 0 1 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 1 0 0 1
Neuromuscular disorder, congenital, with dysmorphic facies 0 1 0 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 1
Neuronal ceroid lipofuscinosis 3 1 0 0 0 1
Neuronal ceroid lipofuscinosis 5 0 1 0 0 1
Neuronal ceroid lipofuscinosis 7 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 10 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 0 0 1 0 1
Niemann-Pick disease, type A 1 0 0 0 1
Niemann-Pick disease, type B 1 0 0 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Norum disease 0 0 1 0 1
Oculocutaneous albinism 0 0 1 0 1
Oculopharyngeal muscular dystrophy 1 0 0 0 1
Odontochondrodysplasia 1 0 0 1 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 1
Orofaciodigital syndrome IX 0 1 0 0 1
Orofaciodigital syndrome type 6 0 1 0 0 1
Osteochondritis dissecans 1 0 0 0 1
Osteogenesis imperfecta type 11 0 1 0 0 1
Osteogenesis imperfecta type III 0 1 0 0 1
Osteoporosis with pseudoglioma 1 0 0 0 1
PCWH syndrome 0 1 0 0 1
PERCHING syndrome 0 0 1 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 1
PMVK-associated autoinflammatory disorder 0 0 1 0 1
POMT2-related disorder 0 0 1 0 1
PSAP-related disorder 1 0 0 0 1
PTEN-related disorder 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
PYCR1- related autosomal recessive cutis laxa 1 0 0 0 1
Pachyonychia congenita 3 0 1 0 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 0 1
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 0 0 1 0 1
Partington syndrome 1 0 0 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 1
Peroxisome biogenesis disorder 10A (Zellweger) 0 1 0 0 1
Peroxisome biogenesis disorder 2B 0 1 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 1 0 0 0 1
Peroxisome biogenesis disorder 8B 0 0 1 0 1
Pfeiffer syndrome 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 1
Piebaldism 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 1
Pontocerebellar hypoplasia type 2E 0 0 1 0 1
Pontocerebellar hypoplasia type 6 0 1 0 0 1
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 1 0 0 0 1
Pontocerebellar hypoplasia, type 12 0 1 0 0 1
Pontocerebellar hypoplasia, type 13 0 0 1 0 1
Pontocerebellar hypoplasia, type 16 0 0 1 0 1
Primary ciliary dyskinesia 20 1 0 0 0 1
Primary ciliary dyskinesia 22 1 0 0 0 1
Primary ciliary dyskinesia 3 0 0 1 0 1
Primary ciliary dyskinesia 5 0 0 1 0 1
Primary dilated cardiomyopathy 0 0 1 0 1
Progressive myositis ossificans 1 0 0 0 1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 0 1 0 1
Prolidase deficiency 0 1 0 0 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 1
Proximal symphalangism 1A 0 0 1 0 1
Pulmonary hypertension, primary, 1 1 0 0 0 1
Pyle metaphyseal dysplasia 1 0 0 0 1
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 0 1 0 1
RHOBTB2-related neurodevelopmental disorder 0 0 1 0 1
Rahman syndrome 0 1 0 0 1
Renal carnitine transport defect 0 0 1 0 1
Renal coloboma syndrome 0 0 1 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 0 0 1
Retinitis pigmentosa 25 0 0 1 0 1
Retinoblastoma 1 0 0 0 1
Rhizomelic dysplasia, Ain-Naz type 0 0 1 0 1
Roberts-SC phocomelia syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome 1 0 0 0 1
SCN2A-mediated disorder 0 1 0 0 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 0 0 1 0 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 0 0 1 0 1
STAT3-related early-onset multisystem autoimmune disease 0 1 0 0 1
Schaaf-Yang syndrome 0 1 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 1
Schwartz-Jampel syndrome type 1 0 0 1 0 1
See cases 0 0 1 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 1
Sessile serrated polyposis cancer syndrome 0 1 0 0 1
Severe X-linked myotubular myopathy 0 1 0 0 1
Severe combined immunodeficiency due to CARD11 deficiency 0 0 1 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 1 0 0 1
Severe early-onset axonal neuropathy due to MFN2 deficiency 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 1 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 0 0 1
Short stature, microcephaly, and endocrine dysfunction 0 0 1 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 0 1 0 1
Short-rib thoracic dysplasia 16 with or without polydactyly 1 0 0 0 1
Short-rib thoracic dysplasia 19 with or without polydactyly 0 0 1 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 1
Shukla-Vernon syndrome 0 1 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 1
Spastic paraplegia 86, autosomal recessive 1 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 1 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 0 1 0 1
Spinal muscular atrophy with congenital bone fractures 1 1 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 1 0 0 1
Spinocerebellar ataxia 47 1 0 0 0 1
Spinocerebellar ataxia type 5 0 1 0 0 1
Spondylocostal dysostosis 1, autosomal recessive 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Genevieve type 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Missouri type 1 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 1 0 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 0 0 1 0 1
Sterile multifocal osteomyelitis with periostitis and pustulosis 0 1 0 0 1
Striatonigral degeneration, childhood-onset 0 0 1 0 1
Sulfite oxidase deficiency 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 1
Syndromic intellectual disability 0 1 0 0 1
Syndromic microphthalmia type 5 0 1 0 0 1
Synpolydactyly type 1 1 0 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 1 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 1
TOMM7-related early onset Leigh disease 0 0 1 0 1
Tay-Sachs disease, variant AB 0 1 0 0 1
Testosterone 17-beta-dehydrogenase deficiency 0 1 0 0 1
Tetraamelia syndrome 2 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 1
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 1 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 1
Transcobalamin II deficiency 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Trichohepatoenteric syndrome 1 0 1 0 0 1
Trichorhinophalangeal dysplasia type I 0 1 0 0 1
Trichothiodystrophy 2, photosensitive 0 0 1 0 1
Trichothiodystrophy 4, nonphotosensitive 1 0 0 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 2 0 1 0 0 1
Tyrosinemia type I 0 1 0 0 1
UFSP2-related neurodevelopmental disorder 0 1 0 0 1
USH1C-related disorder 0 1 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 1
Usher syndrome type 2C 1 0 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 1 0 0 1
VPS13A-related neurodegenerative disease 0 0 1 0 1
Ververi-Brady syndrome 1 0 0 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 1 0 0 1
Von Hippel-Lindau syndrome 0 1 0 0 1
WFS1 Spectrum Disorder 0 1 0 0 1
WT1-related disorder 0 1 0 0 1
Waardenburg syndrome type 3 1 0 0 0 1
Waardenburg syndrome type 4A; Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 1 0 0 0 1
Waardenburg syndrome type 4B 0 1 0 0 1
Waardenburg syndrome type 4C 1 0 0 0 1
Warburg micro syndrome 1 0 1 0 0 1
Warburg micro syndrome 3 1 0 0 0 1
Wieacker-Wolff syndrome 0 1 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 1
Wolfram syndrome 1 1 0 0 0 1
Wolfram-like syndrome 1 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 1 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1
Zimmermann-Laband syndrome 2 0 0 1 0 1
alpha Thalassemia 1 0 0 0 1
early-onset neurohypophyseal diabetes insipidus 0 0 1 0 1
pseudo-Pelger-Huet anomaly 1 0 0 0 1

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