ClinVar Miner

Variants from Daryl Scott Lab, Baylor College of Medicine

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

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

pathogenic likely pathogenic uncertain significance likely benign benign total
509 159 524 6 3 1201

Gene and significance breakdown #

Total genes and gene combinations: 690
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RERE 12 14 8 0 0 34
KMT2D 20 1 2 0 0 23
MED12 5 3 4 0 0 12
BAZ2B 7 4 0 0 0 11
EPG5 5 1 5 0 0 11
CHD7 9 0 1 0 0 10
LRP2 0 1 9 0 0 10
PKHD1 5 4 1 0 0 10
TTN 3 0 7 0 0 10
ARID1A 4 0 4 0 0 8
CPLANE1 5 0 3 0 0 8
PKD1 3 0 5 0 0 8
CREBBP 4 2 1 0 0 7
FREM2 2 2 3 0 0 7
ARID1B 6 0 0 0 0 6
DDX3X 2 4 0 0 0 6
EP300 3 1 2 0 0 6
NOTCH1 1 0 5 0 0 6
SETD5 4 0 2 0 0 6
SMARCA4 1 5 0 0 0 6
ANK3 0 0 5 0 0 5
ANKRD11 5 0 0 0 0 5
COL4A1 0 3 2 0 0 5
MYO15A 0 0 5 0 0 5
NPHP3, NPHP3-ACAD11 4 0 1 0 0 5
PTPN11 5 0 0 0 0 5
SEMA6A 0 1 4 0 0 5
TBCD 1 0 4 0 0 5
TUBA1A 1 3 1 0 0 5
USP9X 3 1 1 0 0 5
WDTC1 0 1 4 0 0 5
ZEB2 4 0 1 0 0 5
ACTB 1 3 0 0 0 4
ADNP 2 0 2 0 0 4
ASPM 3 0 1 0 0 4
BBS1, ZDHHC24 2 0 2 0 0 4
BRCA2 4 0 0 0 0 4
CC2D1A 0 0 3 1 0 4
CEP290 2 0 2 0 0 4
CTC1 1 0 3 0 0 4
DYNC2H1 1 1 2 0 0 4
FRAS1 4 0 0 0 0 4
GLI2 3 0 1 0 0 4
KAT6B 4 0 0 0 0 4
L1CAM 2 0 2 0 0 4
LAMA1 0 0 4 0 0 4
MKKS 2 0 2 0 0 4
MYRF 3 0 1 0 0 4
NSD1 1 0 3 0 0 4
PAX5 4 0 0 0 0 4
PCLO 0 0 4 0 0 4
RARB 1 2 1 0 0 4
RYR1 1 0 3 0 0 4
SMC1A 2 0 2 0 0 4
WDR73 1 1 2 0 0 4
ALG12 3 0 0 0 0 3
AMPD2 0 0 3 0 0 3
BRWD3 1 0 2 0 0 3
CDK13 2 1 0 0 0 3
CENPF 2 0 1 0 0 3
COL11A2 0 1 2 0 0 3
COL4A3, MFF-DT 0 1 2 0 0 3
CSPP1 3 0 0 0 0 3
DHCR7 3 0 0 0 0 3
DOCK6 1 0 2 0 0 3
EFTUD2 3 0 0 0 0 3
EVC 1 0 2 0 0 3
FGFR3 2 0 1 0 0 3
FLNA 1 0 2 0 0 3
FOXG1 3 0 0 0 0 3
FOXP1 3 0 0 0 0 3
HSPG2 0 1 2 0 0 3
ITGA3 1 0 2 0 0 3
KIF7 2 0 1 0 0 3
KMT2A 0 2 1 0 0 3
LRP4 1 0 2 0 0 3
MECP2 2 0 1 0 0 3
MED13L 2 0 1 0 0 3
MRPS22 2 0 1 0 0 3
NONO 3 0 0 0 0 3
NPHP4 0 0 3 0 0 3
PCNT 0 1 2 0 0 3
PDHA1 2 0 1 0 0 3
PNPT1 0 1 2 0 0 3
POGZ 1 1 1 0 0 3
POLG 3 0 0 0 0 3
PUF60 2 0 1 0 0 3
RECQL4 0 0 3 0 0 3
SCN1A 0 0 3 0 0 3
SMARCB1 3 0 0 0 0 3
SON 2 1 0 0 0 3
TBCEL-TECTA, TECTA 0 0 3 0 0 3
TBL1XR1 1 0 2 0 0 3
TUBGCP6 2 0 1 0 0 3
ZBTB20 0 2 1 0 0 3
ABCC2 0 0 2 0 0 2
ABCD1 0 1 1 0 0 2
ACE 0 0 2 0 0 2
ADAMTSL2 0 0 2 0 0 2
ADAT3, SCAMP4 1 1 0 0 0 2
AHI1 0 2 0 0 0 2
ALDH3A2 1 0 1 0 0 2
APC2 0 0 2 0 0 2
APOB 2 0 0 0 0 2
ARFGEF2 0 0 2 0 0 2
ASXL1 2 0 0 0 0 2
ATP6AP2 0 0 2 0 0 2
ATP6V0A2 0 0 2 0 0 2
ATP7A 0 0 2 0 0 2
ATRX 1 0 1 0 0 2
B3GALT6 0 0 2 0 0 2
BAZ2B, TANC1, WDSUB1 2 0 0 0 0 2
BBS10 2 0 0 0 0 2
BBS2 2 0 0 0 0 2
BCOR 0 0 2 0 0 2
BIVM-ERCC5, ERCC5 2 0 0 0 0 2
BRAT1 0 1 0 1 0 2
BRIP1 2 0 0 0 0 2
C2CD3 0 0 1 0 1 2
CC2D2A 2 0 0 0 0 2
CCDST, FLG 2 0 0 0 0 2
CDK5RAP2 1 0 1 0 0 2
CEP135 2 0 0 0 0 2
CHD8 0 0 2 0 0 2
COG1 0 0 2 0 0 2
CPA6 0 1 1 0 0 2
CRPPA 0 0 2 0 0 2
CSNK2A1 0 2 0 0 0 2
CTNNB1 0 2 0 0 0 2
DNAJC12 1 0 1 0 0 2
DPYD 2 0 0 0 0 2
DSTYK 0 0 2 0 0 2
DTNA 0 0 2 0 0 2
DVL3 1 0 1 0 0 2
DYRK1A 1 1 0 0 0 2
EARS2 1 0 1 0 0 2
EHMT1 1 0 1 0 0 2
FANCA, LOC130059837 0 2 0 0 0 2
FANCD2, LOC107303338 1 0 1 0 0 2
FANCI 1 0 1 0 0 2
FAT4 0 0 2 0 0 2
FGFRL1 0 0 2 0 0 2
FKRP 0 1 1 0 0 2
G6PD 2 0 0 0 0 2
GATA3 1 0 1 0 0 2
GJB2 2 0 0 0 0 2
GLDC 1 0 1 0 0 2
GLI3 2 0 0 0 0 2
GLYCTK 0 1 1 0 0 2
GNAI1 0 0 2 0 0 2
GNPTAB 2 0 0 0 0 2
GREB1L 0 1 1 0 0 2
GRIN2B 0 1 1 0 0 2
HAX1 1 0 1 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 0 2
HCFC1 0 0 2 0 0 2
HEXB 1 0 1 0 0 2
HRAS, LRRC56 1 0 1 0 0 2
HSD17B4 0 0 2 0 0 2
IDS, LOC106050102 0 0 2 0 0 2
IGSF1 0 1 1 0 0 2
INTS1 0 1 1 0 0 2
IQCB1 2 0 0 0 0 2
IRAK1BP1, PHIP 1 0 1 0 0 2
JAG1 1 0 1 0 0 2
KERA 0 0 2 0 0 2
KIF14 0 0 2 0 0 2
KIF7, LOC126862216 1 0 1 0 0 2
KLHL7 2 0 0 0 0 2
KMT2C 0 0 2 0 0 2
KNL1 0 1 1 0 0 2
KRAS 2 0 0 0 0 2
LAMB1 0 0 2 0 0 2
LARS1 0 0 2 0 0 2
LOC126859690, PKHD1 2 0 0 0 0 2
LOXHD1 1 0 1 0 0 2
MEIS2 0 1 1 0 0 2
MID1 1 0 1 0 0 2
MKS1 2 0 0 0 0 2
MMACHC 2 0 0 0 0 2
MPDZ 1 0 1 0 0 2
MSTO1 1 0 1 0 0 2
MTOR 1 1 0 0 0 2
NF1 1 0 1 0 0 2
NIPBL 0 1 1 0 0 2
NOTCH2 0 0 2 0 0 2
NTRK1 1 0 1 0 0 2
PCCB 2 0 0 0 0 2
PHIP 1 1 0 0 0 2
PHOX2B 1 1 0 0 0 2
PIEZO2 0 0 2 0 0 2
PIGL 1 1 0 0 0 2
PIGQ 1 1 0 0 0 2
PIK3CA 2 0 0 0 0 2
PMM2 1 0 1 0 0 2
PORCN 2 0 0 0 0 2
PPP2R1A 2 0 0 0 0 2
PRR12 2 0 0 0 0 2
PTPRQ 0 0 1 1 0 2
QARS1 0 0 2 0 0 2
RAB3GAP1 2 0 0 0 0 2
RAD50 2 0 0 0 0 2
RAD51C 0 0 2 0 0 2
RET 0 1 1 0 0 2
SACS 0 0 1 1 0 2
SALL1 1 0 1 0 0 2
SALL4 1 0 1 0 0 2
SCLT1 0 0 2 0 0 2
SHROOM4 0 0 2 0 0 2
SKI 0 0 2 0 0 2
SLC25A1 0 0 2 0 0 2
SLC35C1 1 0 1 0 0 2
SLC5A6 0 1 1 0 0 2
SLX4 0 0 2 0 0 2
SMARCC2 0 0 2 0 0 2
SRD5A3 1 0 1 0 0 2
STAG2 1 0 1 0 0 2
TBXAS1 0 0 2 0 0 2
TCF4 2 0 0 0 0 2
TFAP2A 0 2 0 0 0 2
TKT 0 0 2 0 0 2
TMEM67 0 0 2 0 0 2
TNXB 0 0 2 0 0 2
TPO 1 0 1 0 0 2
TRAF7 1 1 0 0 0 2
TRRAP 1 1 0 0 0 2
TUBB3 2 0 0 0 0 2
UBE3B 1 0 1 0 0 2
VPS13B 0 0 2 0 0 2
VWF 0 0 2 0 0 2
ZFPM2 2 0 0 0 0 2
​intergenic 0 0 1 0 0 1
AASS 0 1 0 0 0 1
AATF, ACACA, C17orf78, CCL3L3, CCL4L2, 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, TBC1D3B, TBC1D3F, TBC1D3G, TBC1D3H, TBC1D3I, TBC1D3K, ZNHIT3 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DUSP14, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390866, LOC129390867, MIR2909, MIR378J, SNORA90, SYNRG, TADA2A 0 0 1 0 0 1
ABCB6 0 0 1 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, LOC131696449, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA6, NPIPA7, NTAN1, PDXDC1, RRN3 0 0 1 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, MARF1, MIR1972-1, MIR3180-4, MIR484, MIR6506, MIR6511B2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC129390771, LOC129390772, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC131696449, MARF1, MIR3179-2, MIR3180-2, MIR3670-2, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO3, NPIPA5, NPIPA6, NPIPA7, XYLT1 1 0 0 0 0 1
ABCD1, PLXNB3 0 0 1 0 0 1
ABCG5 0 0 1 0 0 1
ABCG5, DYNC2LI1 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029311, LOC107986742, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129869689, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ABHD12, ENTPD6, GINS1, LOC101926889, LOC112694695, LOC112694696, LOC126863008, LOC129391161, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC284798, NINL, PYGB 0 0 1 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ABL1 0 1 0 0 0 1
ACADM 1 0 0 0 0 1
ACADS 0 0 1 0 0 1
ACO2, POLR3H 1 0 0 0 0 1
ACTG1 1 0 0 0 0 1
ACTG1, LOC130061940 0 1 0 0 0 1
ACTRT2, ARHGEF16, C1orf174, CCDC27, CEP104, DFFB, HES5, LINC01134, LINC01345, LINC01346, LINC01777, LINC02780, LOC100996583, LOC105378604, LOC108281140, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC120851201, LOC121677384, LOC121967050, LOC121967051, LOC121967052, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC128505377, LOC129388423, LOC129388424, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIR4251, MIR551A, MMEL1, PANK4, PRDM16, PRDM16-DT, PRXL2B, SMIM1, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 0 0 1 0 0 1
ACYP1, NPC2 0 0 1 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, CECR7, GAB4, HDHD5, IL17RA, LINC00528, LINC01634, LINC01664, LOC101929372, LOC106799832, LOC106799835, LOC114827861, LOC121627928, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC129391259, LOC129391260, LOC129391261, LOC130066888, LOC130066889, LOC130066890, LOC130066891, LOC130066892, LOC130066893, LOC130066894, LOC130066895, LOC130066896, LOC130066897, LOC130066898, LOC130066899, LOC130066900, LOC130066901, LOC130066902, LOC130066903, LOC130066904, LOC130066905, LOC130066906, LOC130066907, LOC130066908, LOC130066909, LOC130066910, LOC130066911, LOC130066912, LOC130066913, LOC130066914, LOC130066915, LOC130066916, LOC130066917, LOC130066918, LOC130066919, LOC130066920, LOC130066921, LOC130066922, LOC130066923, LOC130066924, LOC130066925, LOC130066926, LOC130066927, LOC130066928, LOC130066929, LOC130066930, LOC130066931, LOC130066932, LOC130066933, LOC130066934, LOC130066935, LOC130066936, LOC130066937, LOC130066938, LOC130066939, LOC130066940, LOC130066941, LOC130066942, LOC130066943, LOC130066944, LOC130066945, LOC130066946, LOC130066947, LOC132090620, LOC132090621, LOC132090622, LOC132090623, LOC132090624, LOC132090625, LOC132090626, MICAL3, MIR3198-1, MIR648, PEX26, SLC25A18, TMEM121B, TUBA8, USP18, XKR3 1 0 0 0 0 1
ADSL 1 0 0 0 0 1
AFF4 0 0 1 0 0 1
AFG2B, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, LOC130056992, LOC130056993, LOC130056994, LOC130056995, LOC130056996, LOC130056997, LOC130056998, LOC130056999, MIR147B, SHF, SLC28A2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 1
AGXT 1 0 0 0 0 1
AIFM3, CRKL, FAM230B, FAM230H, FAM246A, FAM247A, GGT2, KLHL22, LINC01637, LINC01651, LOC110121413, LOC112694767, LOC121627930, LOC121627931, LOC129391265, LOC129391266, LOC129391267, LOC129391268, LOC129391269, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR649, P2RX6, PI4KA, RIMBP3B, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 0 0 1 0 0 1
AKAP8, AKAP8L, AP1M1, BRD4, CASP14, CIB3, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, EPHX3, FAM32A, HACL2, HSH2D, ILVBL, LINC00661, LINC00905, LINC01855, LOC112543462, LOC113939968, LOC121627859, LOC121852982, LOC125371486, LOC125371487, LOC126862871, LOC126862872, LOC126862873, LOC128854698, LOC129391075, LOC130063806, LOC130063807, LOC130063808, LOC130063809, LOC130063810, LOC130063811, LOC130063812, LOC130063813, LOC130063814, LOC130063815, LOC130063816, LOC130063817, LOC130063818, LOC130063819, LOC130063820, LOC130063821, LOC130063822, LOC130063823, LOC130063824, LOC130063825, LOC130063826, LOC130063827, LOC130063828, LOC130063829, LOC130063830, LOC130063831, LOC130063832, LOC130063833, LOC130063834, LOC130063835, LOC130063836, LOC130063837, LOC130063838, LOC130063839, LOC130063840, LOC130063841, LOC130063842, LOC130063843, LOC130063844, LOC130063845, LOC130063846, LOC130063847, LOC130063848, LOC130063849, LOC130063850, LOC130063851, LOC130063852, LOC130063853, LOC130063854, LOC130063855, LOC130063856, LOC130063857, LOC130063858, LOC130063859, LOC130063860, LOC130063861, LOC130063862, LOC130063863, MIR1470, MIR6795, NOTCH3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, PGLYRP2, RAB8A, RASAL3, SYDE1, TEKTL1, TPM4, UCA1, WIZ 1 0 0 0 0 1
ALAS2 0 0 1 0 0 1
ALDH1B1, ANKRD18A, CCIN, CLTA, CNTNAP3, DCAF10, EXOSC3, FBXO10, FRMPD1, GLIPR2, GNE, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, RECK, RNF38, SHB, SLC25A51, TOMM5, TRMT10B, ZBTB5, ZCCHC7 1 0 0 0 0 1
ALDH1B1, ANKRD18A, CNTNAP3, DCAF10, EXOSC3, FBXO10, FRMPD1, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, SHB, SLC25A51, SPATA31A1, SPATA31A3, TOMM5, TRMT10B, ZBTB5, ZCCHC7, ZNF658 1 0 0 0 0 1
ALDH1B1, ANKRD18A, DCAF10, EXOSC3, FBXO10, FRMPD1, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, SHB, SLC25A51, TOMM5, TRMT10B, ZBTB5, ZCCHC7 1 0 0 0 0 1
ALDH4A1 0 1 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, 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, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 0 1
ALOX5AP, B3GLCT, HMGB1, HSPH1, KATNAL1, LINC00398, LINC00426, LINC00427, LINC00545, LINC01058, LINC01066, LOC110121384, LOC124849307, LOC124855075, LOC126861724, LOC126861725, LOC126861726, LOC126861727, LOC129390598, LOC130009489, LOC130009490, LOC130009491, LOC130009492, LOC130009493, LOC130009494, LOC130009495, LOC130009496, LOC130009497, LOC130009498, LOC130009499, LOC130009500, LOC130009501, LOC130009502, LOC130009503, LOC130009504, LOC130009505, LOC130009506, LOC130009507, LOC130009508, LOC130009509, LOC130009510, LOC130009511, LOC130009512, LOC130009513, LOC130009514, LOC130009515, LOC130009516, MEDAG, TEX26, TRN-GTT2-4, UBE2L5, USPL1 0 0 1 0 0 1
AMELX, ARHGAP6, FRMPD4, LOC111365193, LOC113845783, LOC113845784, LOC121853051, LOC125446271, LOC130067939, LOC130067940, LOC130067941, LOC130067942, MIR548AX, MSL3, MSL3-DT 0 0 1 0 0 1
AMER1 1 0 0 0 0 1
AMMECR1 0 1 0 0 0 1
ANGEL2, ATF3, BATF3, FLVCR1, FLVCR1-DT, GARIN4, LINC01740, LINC02771, LINC02773, LOC110121057, LOC110121257, LOC112577538, LOC112577542, LOC115804245, LOC115804246, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC126806003, LOC126806004, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC132088640, LOC132088641, LOC132088644, NENF, NSL1, PACC1, PPP2R5A, RPS6KC1, SNORA16B, SPATA45, TATDN3, VASH2 0 0 1 0 0 1
ANKLE2 0 0 1 0 0 1
ANKRD34A, ANKRD35, ANKRD35-DT, CD160, GPR89A, HJV, ITGA10, LIX1L, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, LOC129388601, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 1 0 0 1
ANKS6 0 0 1 0 0 1
AOPEP, FANCC 1 0 0 0 0 1
ARHGAP8, KIAA0930, LINC00207, LINC00229, LINC01656, LOC101927551, LOC105373064, LOC112695103, LOC114004364, LOC121853046, LOC125446255, LOC126863163, LOC126863164, LOC126863165, LOC128772436, LOC128772437, LOC128772438, LOC130067656, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, MIR1249, NUP50, NUP50-DT, PARVG, PHF21B, PRR5, PRR5-ARHGAP8, RTL6, SHISAL1 0 0 1 0 0 1
ARHGEF39, ATOSB, CA9, CCDC107, CCIN, CD72, CIMIP2B, CLTA, CREB3, FAM221B, FANCG, FBXO10, FRMPD1, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, MELK, MSMP, NPR2, OR13J1, OR2S2, PAX5, PIGO, POLR1E, RECK, RGP1, RMRP, RNF38, RUSC2, SIT1, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TOMM5, TPM2, UNC13B, VCP, ZBTB5, ZCCHC7 1 0 0 0 0 1
ARHGEF6 0 0 1 0 0 1
ARL14EP, ARL14EP-DT, DCDC1, DNAJC24, ELP4, FSHB, IMMP1L, KCNA4, LINC01616, LINC02546, LINC02755, LINC02859, LINC03031, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC110120941, LOC110121388, LOC126861174, LOC126861175, LOC126861176, LOC129390272, LOC129390273, LOC129390274, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC132089928, LOC132089929, MPPED2, PAUPAR, PAX6, PAX6DRR, PAX6_HS3, PAX6_HS8, RCN1, SNORA88 1 0 0 0 0 1
ARL5A, LOC108348024, LOC112806054, LOC115945200, LOC120977009, LOC126806373, LOC129934916, NEB, RIF1 0 0 1 0 0 1
ARL6IP5, EIF4E3, EOGT, FOXP1, FOXP1-IT1, FRMD4B, GPR27, LMOD3, MITF, PROK2, RYBP, TAFA4, TMF1, UBA3 1 0 0 0 0 1
ARL8B, BHLHE40, BRRIAR, CHL1, CNTN4, CNTN6, CRBN, EDEM1, EGOT, GRM7, IL5RA, ITPR1, ITPR1-DT, LINC01266, LOC100130207, LOC105376944, LOC107522028, LOC107522035, LOC111429626, LOC111501788, LOC112935931, LOC112935932, LOC115995504, LOC121009636, LOC121725127, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC129389017, LOC129389018, LOC129936035, LOC129936036, LOC129936037, LOC129936038, LOC129936039, LOC129936040, LOC129936041, LOC129936042, LOC129936043, LOC129936044, LOC129936045, LOC129936046, LOC129936047, LOC129936048, LOC129936049, LOC129936050, LOC129936051, LOC129936052, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066, LOC129936067, LOC129936068, LOC129936069, LOC129936070, LOC129936071, LOC129936072, LOC129936073, LOC129936074, LOC129936075, LOC129936076, LOC129936077, LOC129936078, LOC129936079, LOC129936080, LOC129936081, LOC129936082, LOC129936083, LOC129936084, LOC129936085, LOC129936086, LOC129936087, LOC129936088, LOC129936089, LOC129936090, LOC129936091, LOC129936092, LOC129936093, LOC129936094, LOC129936095, LOC129936096, LOC129936097, LOC129936098, LOC129936099, LOC129936100, LOC129936101, LOC129936102, LOC129936103, LOC129936104, LOC129936105, LOC129936106, LOC132088944, LOC132088949, LOC132088954, LOC132088963, LOC132088964, LOC132088965, LOC132088977, LOC132088979, LOC132088980, LRRN1, MIR4790, SETMAR, SUMF1, TRNT1 1 0 0 0 0 1
ASCC1 1 0 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 1
ASL 1 0 0 0 0 1
ASPSCR1, B3GNTL1, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXD, HEXD-IT1, LINC01970, LOC101929552, LOC108254691, LOC108348028, LOC112533686, LOC112533687, LOC121627820, LOC121852956, LOC121852957, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390948, LOC129390949, LOC129390950, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LRRC45, METRNL, MIR4525, MIR6787, NARF, OGFOD3, RAB40B, RAC3, RFNG, SECTM1, SLC16A3, SNORD134, TBCD, TEX19, TRX-CAT1-8, UTS2R, WDR45B, ZNF750 0 0 1 0 0 1
ASTN2, LOC130002464, LOC130002465, LOC130002466, TRIM32 0 0 1 0 0 1
ASXL3 1 0 0 0 0 1
ASZ1, CAPZA2, CFTR, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674476, LOC111674478, LOC113219433, LOC113219434, LOC113219440, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113664106, LOC113664107, LOC116186911, LOC123956215, LOC126860159, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MIR6132, ST7, ST7-OT3, ST7-OT4, WNT2 0 0 1 0 0 1
ATF6 0 0 1 0 0 1
ATP2B3 0 0 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 0 1
AXDND1, NPHS2 1 0 0 0 0 1
BAG3 1 0 0 0 0 1
BAZ2B, CD302, ITGB6, LY75, LY75-CD302, MARCHF7, PLA2R1, TANC1, WDSUB1 1 0 0 0 0 1
BBS4 1 0 0 0 0 1
BBS9 0 0 1 0 0 1
BCS1L 1 0 0 0 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, LINC00885, LINC01063, LINC02012, LOC105374308, LOC111828515, LOC112935924, LOC115995537, LOC115995538, LOC121048736, LOC121725167, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC124906253, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC129389196, LOC129389197, LOC129938256, LOC129938257, LOC129938258, LOC129938259, LOC129938260, LOC129938261, LOC129938262, LOC129938263, LOC129938264, LOC129938265, LOC129938266, LOC129938267, LOC129938268, LOC129938269, LOC129938270, LOC129938271, LOC129938272, LOC129938273, LOC129938274, LOC129938275, LOC129938276, LOC129938277, LOC129938278, LOC129938279, LOC129938280, LOC129938281, LOC129938282, LOC129938283, LOC129938284, LOC129938285, LOC129938286, LOC129938287, LOC129938288, LOC129938289, LOC129938290, LOC129938291, LOC129938292, LOC129938293, LOC129938294, LOC129938295, LOC129938296, LOC129938297, LOC129938298, LOC129938299, LOC129938300, LOC129938301, LOC129938302, LOC129938303, LOC129938304, LOC129938305, LOC129938306, LOC129938307, LOC129938308, LOC129938309, LOC129938310, LOC129938311, LOC129938312, LOC129938313, LOC129938314, LOC129938315, LOC129938316, MELTF, MIR4797, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TM4SF19-DYNLT2B, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 1
BETALINC1, LOC110121332, LOC112268271, LOC121627898, LOC130065517, LOC130065518, NKX2-2, NKX2-4, XRN2 0 0 1 0 0 1
BIRC6, LINC00486, LOC100271832, LOC112840924, LOC112840925, LOC122756687, LOC122756688, LOC122756689, LOC126806184, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC132088840, LTBP1, MIR4765, MIR558, TTC27 0 0 1 0 0 1
BLTP3A, ILRUN, LOC111365181, LOC129996218, LOC129996219, LOC129996220, LOC129996221, LOC129996222, LOC129996223, LOC129996224, LOC129996225, LOC129996226, SNRPC 0 0 1 0 0 1
BMPR2 1 0 0 0 0 1
BPTF 0 0 1 0 0 1
BRAF 0 1 0 0 0 1
BRIP1, INTS2, LOC110120932, LOC130061360, LOC130061361, LOC130061362, MED13 0 0 1 0 0 1
BRPF1 1 0 0 0 0 1
C12orf57 1 0 0 0 0 1
C17orf107, CHRNE 1 0 0 0 0 1
C8orf48, DLC1, LOC102725080, LOC132090783 0 0 1 0 0 1
CABP2 0 0 1 0 0 1
CACNA1C 0 0 1 0 0 1
CAD, LOC126806171 0 0 1 0 0 1
CAPS2, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KRR1, LOC100130268, LOC124629407, LOC129390507, LOC130008300, LOC130008301, LOC130008302, LOC130008303 0 0 1 0 0 1
CARS2 0 0 1 0 0 1
CASR 0 0 1 0 0 1
CBL 1 0 0 0 0 1
CBS 1 0 0 0 0 1
CCDC22 0 0 1 0 0 1
CCNH, RASA1 1 0 0 0 0 1
CCNQ 0 1 0 0 0 1
CD151 1 0 0 0 0 1
CD300LG, CFAP97D1, DUSP3, FAM215A, LINC01976, LINC02594, LOC102724183, LOC112533640, LOC121587594, LOC125177485, LOC125177486, LOC125177487, LOC126862572, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, MEOX1, MPP2, MPP3, NAGS, PPY, PYY, SOST, TMEM101 0 0 1 0 0 1
CD96 0 0 1 0 0 1
CDH1 0 0 1 0 0 1
CDH15 0 0 1 0 0 1
CDK10 0 1 0 0 0 1
CDK8 1 0 0 0 0 1
CDKL5 0 1 0 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CDKN1C 1 0 0 0 0 1
CEP162, CGA, CYB5R4, DOP1A, HTR1E, LINC01611, LINC02535, LINC02857, LOC105377879, LOC110121249, LOC113175019, LOC116183065, LOC121132696, LOC121132697, LOC121132698, LOC123775379, LOC123775380, LOC123775381, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, ME1, MRAP2, NT5E, PGM3, PRSS35, RIPPLY2, RIPPLY2-CYB5R4, RWDD2A, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SYNCRIP, TBX18, UBE3D 1 0 0 0 0 1
CEP85L, PLN 1 0 0 0 0 1
CFAP69, FAM237B, GTPBP10, LOC101927446, LOC129998766, LOC129998767, LOC129998768, LOC129998769, LOC129998770, LOC129998771, STEAP1, STEAP2 0 0 1 0 0 1
CFH 0 0 1 0 0 1
CHAMP1 1 0 0 0 0 1
CHD4 0 1 0 0 0 1
CHD7, LOC126860403 0 0 1 0 0 1
CHFR, CHFR-DT, GOLGA3, LOC126861700, LOC126861701, LOC130009274, LOC130009275, LOC130009276, LOC130009277, LOC130009278, LOC130009279, LOC130009280, LOC130009281, LOC132090863, SFSPAT, ZNF605 0 0 1 0 0 1
CHMP1A 1 0 0 0 0 1
CHRFAM7A, GOLGA8R, GOLGA8T, LINC02249, LOC106736464 0 0 1 0 0 1
CHRNA7, FAN1, KLF13, LINC02352, LINC03034, LOC106736477, LOC110121498, LOC112272582, LOC121847941, LOC125078053, LOC126862088, LOC126862089, LOC127829159, LOC128899998, LOC128899999, LOC129390680, LOC129390681, LOC130056726, LOC130056727, MIR211, MTMR10, OTUD7A, TRPM1 0 0 1 0 0 1
CHRNG 1 0 0 0 0 1
CLTRN 1 0 0 0 0 1
CLUAP1, CREBBP, DNASE1, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4, TRAP1 0 0 1 0 0 1
CNGB3 1 0 0 0 0 1
CNTNAP1 1 0 0 0 0 1
CNTNAP2 0 0 1 0 0 1
COG4 1 0 0 0 0 1
COG6 1 0 0 0 0 1
COG7, LOC130058658 0 0 1 0 0 1
COL18A1 1 0 0 0 0 1
COLEC11 0 0 1 0 0 1
COX6B1 0 0 1 0 0 1
CPAP, RNF17 0 1 0 0 0 1
CPT1A 1 0 0 0 0 1
CSMD1, LOC107522030, LOC123987610 0 0 1 0 0 1
CTDP1 0 0 1 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 1
CTNS 1 0 0 0 0 1
CTU2 1 0 0 0 0 1
CUL3 1 0 0 0 0 1
CUL4B, LOC113845788 0 0 1 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 1
CYP26C1 0 1 0 0 0 1
DCPS, TIRAP 0 0 1 0 0 1
DCX 0 0 1 0 0 1
DDX6 0 1 0 0 0 1
DHX30 0 0 1 0 0 1
DIPK2A, LOC129937722, LOC129937723 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 1
DISP1 0 0 1 0 0 1
DKC1, LOC130068886 0 0 0 1 0 1
DMD 0 0 1 0 0 1
DNAAF19 1 0 0 0 0 1
DNAH11 0 0 1 0 0 1
DNAH5 1 0 0 0 0 1
DNM1L 0 1 0 0 0 1
DOCK8, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, LOC130001435, LOC130001436, LOC130001437, LOC130001438, PGM5P3, ZNG1A 0 0 1 0 0 1
DPH1 1 0 0 0 0 1
DPYSL5 1 0 0 0 0 1
DUSP22, LOC129995536, LOC129995537, LOC129995538 0 0 1 0 0 1
EDAR, RANBP2 0 0 1 0 0 1
EFNB1 1 0 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 1
EPG5, LOC126862737 1 0 0 0 0 1
ERBB3 0 1 0 0 0 1
ERF 0 1 0 0 0 1
ESCO2 0 0 1 0 0 1
EXT1 0 0 1 0 0 1
FABP12, FABP4, FABP5, FABP9, IMPA1, LNMICC, LOC105375924, LOC124174284, LOC126860430, LOC130000668, LOC130000669, LOC130000670, LOC130000671, LOC130000672, LOC130000673, LOC130000674, LOC130000675, LOC130000676, LOC130000677, LOC130000678, LOC130000679, LOC130000680, LOC130000681, PAG1, PMP2 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FANCA, ZNF276 1 0 0 0 0 1
FANCD2, LOC107303338, VHL 1 0 0 0 0 1
FANCG 1 0 0 0 0 1
FANCL, VRK2 0 0 1 0 0 1
FANCM 0 0 1 0 0 1
FBXO11 0 1 0 0 0 1
FGFR1 0 0 1 0 0 1
FGFR2 0 0 1 0 0 1
FIG4 1 0 0 0 0 1
FLT4 1 0 0 0 0 1
FN1 0 0 1 0 0 1
FOXC2 1 0 0 0 0 1
FOXF1 1 0 0 0 0 1
FOXG1, LINC01551 1 0 0 0 0 1
FOXL2 1 0 0 0 0 1
FOXR2 0 0 1 0 0 1
FREM1 0 0 1 0 0 1
FRMPD4 0 0 1 0 0 1
FYCO1 1 0 0 0 0 1
FZD5 0 0 1 0 0 1
GABRA1, GABRA6, LINC01202 0 0 1 0 0 1
GALNS 0 0 1 0 0 1
GAN 1 0 0 0 0 1
GATA4 1 0 0 0 0 1
GFAP 1 0 0 0 0 1
GHR, LOC107963949 0 0 1 0 0 1
GIPC3 0 1 0 0 0 1
GJA1 1 0 0 0 0 1
GLB1 1 0 0 0 0 1
GLDC, LOC111413010, LOC130001539, LOC130001540, LOC130001541 0 0 1 0 0 1
GMPPB 1 0 0 0 0 1
GNB5 1 0 0 0 0 1
GNE 1 0 0 0 0 1
GPAA1, LOC130001364 0 0 1 0 0 1
GPC3, LOC130068717, LOC130068718 1 0 0 0 0 1
GPC4 0 0 1 0 0 1
GPC5 0 0 0 0 1 1
GRIA4 0 0 1 0 0 1
GRIP1 0 0 1 0 0 1
HCCS 0 1 0 0 0 1
HDAC3 0 0 1 0 0 1
HDAC4 0 0 1 0 0 1
HEXA 1 0 0 0 0 1
HNF1B 1 0 0 0 0 1
HNRNPU 1 0 0 0 0 1
HOXA1 0 0 1 0 0 1
HOXD13 0 0 0 1 0 1
HSD11B1 0 0 1 0 0 1
HUWE1 0 0 1 0 0 1
HYDIN 0 0 1 0 0 1
IGBP1 0 0 1 0 0 1
INSR 0 0 1 0 0 1
ITPRID2, LOC126806441, LOC129388962, LOC129388963, LOC129388964, PDE1A, PPP1R1C 0 0 1 0 0 1
KANSL1 1 0 0 0 0 1
KANSL1, LOC129390878, LRRC37A 0 0 1 0 0 1
KAT6A 1 0 0 0 0 1
KBTBD13 0 0 1 0 0 1
KCNJ1 1 0 0 0 0 1
KCNQ1 1 0 0 0 0 1
KCNQ2 0 1 0 0 0 1
KDM5B, LOC129932249 0 0 1 0 0 1
KDM6A 1 0 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIF1A 1 0 0 0 0 1
KIF2A 0 1 0 0 0 1
KIF4A 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KLHL40 0 1 0 0 0 1
KMT2B 0 1 0 0 0 1
KMT2C, LOC129999681 0 0 1 0 0 1
KMT2D, LOC126861520 0 0 1 0 0 1
KMT5B 1 0 0 0 0 1
LAMA1, LOC126862685 0 0 1 0 0 1
LAMA4 0 0 1 0 0 1
LARGE1 0 0 1 0 0 1
LHFPL6, LOC105370169, LOC124855089, LOC130009589, LOC130009590, LOC130009591, LOC130009592, LOC132090191, LOC132090192, LOC132090193, NHLRC3, PROSER1, STOML3 0 0 1 0 0 1
LINC01506, LOC130001851, LOC130001852, LOC130001853, LOC130001854, LOC130001855, LOC130001856, LOC130001857, PGM5, PIP5K1B, TMEM252, TMEM252-DT 0 0 1 0 0 1
LINC02284, PELI2 0 0 1 0 0 1
LINC02604, LOC121740683, LOC121740684, LOC123956156, LOC126860057, LOC129389807, LOC129389808, LOC129998538, LOC129998539, LOC129998540, LOC129998541, LOC129998542, LOC129998543, MIR4650-1, RABGEF1, SBDS, TMEM248, TYW1 0 0 1 0 0 1
LINC03113, LOC106029241, LOC121627957, LOC125446266, LOC126863198, LOC126863199, LOC126863200, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR651, PNPLA4, VCX2, VCX3B 0 0 1 0 0 1
LIPT1, MITD1 1 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMX1B 0 0 1 0 0 1
LNCR-SMAL, LOC126859869, LOC126859870, LOC126859871, PRKN 0 0 1 0 0 1
LOC100131472, LOC110120772, LOC113687186, LOC129389744, LOC129389745, LOC129389746, LOC129997992, LOC129997993, LOC129997994, LOC129997995, MGC4859, NDUFA4, PHF14 0 0 1 0 0 1
LOC101928438, LOC126860703, LOC130002242, LOC130002243, NR4A3 0 0 1 0 0 1
LOC105371856, TANC2 0 0 1 0 0 1
LOC105376032, PAX5 1 0 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107075317, SIX5 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LOC111721705, ZEB2 1 0 0 0 0 1
LOC125467766, TENT5D 0 0 1 0 0 1
LOC126806608, WNT7A 0 0 1 0 0 1
LOC126807212, TLL1 0 0 1 0 0 1
LOC126807485, SEMA6A 0 0 1 0 0 1
LOC126807526, MATR3 0 0 1 0 0 1
LOC126859827, TAB2 0 0 1 0 0 1
LOC126860075, POR 1 0 0 0 0 1
LOC126860794, NOTCH1 1 0 0 0 0 1
LOC126862983, MGME1 0 0 1 0 0 1
LOC126863252, RBM10 1 0 0 0 0 1
LOC129936379, NGLY1 0 0 1 0 0 1
LOC129938140, LPP, MIR28 0 0 1 0 0 1
LOC129991944, LOC129991945, LOC129991946, ZNF595, ZNF718 0 0 1 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC129996745, PHIP 0 0 1 0 0 1
LOC129996857, NDUFAF4 0 0 1 0 0 1
LOC130004065, MICU1 1 0 0 0 0 1
LOC130064193, SCGB2B2, UBA2, WTIP 1 0 0 0 0 1
LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC132090562, LOC132090563, LOC132090564, LOC132090565, MACROD2 0 0 0 0 1 1
LOC130065980, SLC12A5 0 0 1 0 0 1
LOC132089565, LOC132089566, LOC132089567, LOC132089568, LOC132089569, LOC132089570, LOC132089571, LOC132089572, LOC132089573, LOC132089574, LOC132089575, LOC132089576, LOC132089577, LOC132205968, LOC132205969, SGCZ 0 0 1 0 0 1
LRBA, MAB21L2 1 0 0 0 0 1
LRRC37A2, NSF 1 0 0 0 0 1
MAGEA1 0 0 1 0 0 1
MAGEL2 1 0 0 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K20 1 0 0 0 0 1
MBTPS2 0 0 1 0 0 1
MCPH1 1 0 0 0 0 1
MCTP2 0 0 1 0 0 1
MED25 0 0 1 0 0 1
MFSD8 0 0 1 0 0 1
MIB1 0 0 1 0 0 1
MMP2 1 0 0 0 0 1
MNX1 0 1 0 0 0 1
MPV17 0 0 1 0 0 1
MTFMT 1 0 0 0 0 1
MYBPC3 1 0 0 0 0 1
MYCN 0 0 1 0 0 1
MYH7 0 1 0 0 0 1
MYLK 0 0 1 0 0 1
MYO18B 1 0 0 0 0 1
MYPN 0 0 1 0 0 1
NAA10 1 0 0 0 0 1
NAA15 1 0 0 0 0 1
NBEA 0 1 0 0 0 1
NDUFV1 0 0 1 0 0 1
NEB 0 0 1 0 0 1
NEB, RIF1 0 1 0 0 0 1
NEDD4L 0 1 0 0 0 1
NFKBIA 0 1 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NR2F2 0 1 0 0 0 1
NRXN1 0 0 1 0 0 1
NSUN2 1 0 0 0 0 1
NUBPL 0 1 0 0 0 1
OFD1 0 0 1 0 0 1
OPHN1 1 0 0 0 0 1
OPLAH 0 0 1 0 0 1
ORC1 1 0 0 0 0 1
OTOG 0 0 1 0 0 1
OTOGL 0 0 1 0 0 1
OTX2 1 0 0 0 0 1
PACS1 1 0 0 0 0 1
PACS2 1 0 0 0 0 1
PAH 1 0 0 0 0 1
PAK3 0 0 1 0 0 1
PAPSS2 0 0 1 0 0 1
PARS2 0 0 1 0 0 1
PAX2 1 0 0 0 0 1
PAX6 1 0 0 0 0 1
PC 0 0 1 0 0 1
PDHX 0 1 0 0 0 1
PDZD2 0 0 1 0 0 1
PEPD 0 0 1 0 0 1
PEX12 1 0 0 0 0 1
PHEX 0 0 1 0 0 1
PIGG 1 0 0 0 0 1
PIGN 1 0 0 0 0 1
PKD1L1 1 0 0 0 0 1
PLCE1 1 0 0 0 0 1
PMS2 1 0 0 0 0 1
POLG, POLGARF 0 0 1 0 0 1
POLR1A 0 1 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 1
POMT1 0 1 0 0 0 1
POR 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 1
PQBP1 1 0 0 0 0 1
PSAT1 0 0 1 0 0 1
PSMA7 0 0 1 0 0 1
PTCH1 0 0 1 0 0 1
PTEN 1 0 0 0 0 1
PYCR1 1 0 0 0 0 1
RAB23 1 0 0 0 0 1
RAB3GAP2 1 0 0 0 0 1
RAC1 0 1 0 0 0 1
RAD51 0 1 0 0 0 1
RAPSN 1 0 0 0 0 1
RBBP8 0 1 0 0 0 1
RIC1 1 0 0 0 0 1
RNF216 1 0 0 0 0 1
ROBO4 1 0 0 0 0 1
RP1L1 0 0 1 0 0 1
RPGRIP1L 1 0 0 0 0 1
RPS19 1 0 0 0 0 1
RPS6KA3 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 1
RYR2 1 0 0 0 0 1
SAMD9 0 1 0 0 0 1
SCN2A 0 0 1 0 0 1
SCN5A 0 0 1 0 0 1
SCN8A 0 0 1 0 0 1
SDHAF1 1 0 0 0 0 1
SERPINF1 1 0 0 0 0 1
SETBP1 0 0 1 0 0 1
SETD1A 1 0 0 0 0 1
SETD2 1 0 0 0 0 1
SF3B4 0 0 1 0 0 1
SFXN4 0 1 0 0 0 1
SH2B1 0 0 1 0 0 1
SH3TC2 1 0 0 0 0 1
SHH 1 0 0 0 0 1
SHOC2 1 0 0 0 0 1
SIX5 0 0 1 0 0 1
SLC12A3 1 0 0 0 0 1
SLC20A2 1 0 0 0 0 1
SLC26A4 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 1
SLC44A4 0 0 1 0 0 1
SLC7A9 0 0 1 0 0 1
SLIRP 0 0 1 0 0 1
SMAD4 1 0 0 0 0 1
SMAD6 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SMS 0 1 0 0 0 1
SOS1 0 0 1 0 0 1
SOX11 0 1 0 0 0 1
SOX5 0 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 1
SPEG 0 0 1 0 0 1
SPG11 1 0 0 0 0 1
SPTB 0 0 1 0 0 1
SRC 0 0 1 0 0 1
STIL 0 0 1 0 0 1
SUMF1 1 0 0 0 0 1
SYNE2 0 0 1 0 0 1
SYT1 0 1 0 0 0 1
TAPBP 0 1 0 0 0 1
TBCE 1 0 0 0 0 1
TBCK 1 0 0 0 0 1
TBX1 0 0 1 0 0 1
TBX3 0 1 0 0 0 1
TBX5 0 0 1 0 0 1
TBX6 1 0 0 0 0 1
TCF12 0 1 0 0 0 1
TCF20 0 1 0 0 0 1
TCIRG1 1 0 0 0 0 1
TCTN1 0 1 0 0 0 1
TCTN3 1 0 0 0 0 1
TECPR2 0 0 1 0 0 1
TENM1 0 0 1 0 0 1
TET3 0 1 0 0 0 1
TG 1 0 0 0 0 1
THOC2 0 0 1 0 0 1
TJP2 1 0 0 0 0 1
TMEM126B 1 0 0 0 0 1
TMEM138 1 0 0 0 0 1
TMEM231 1 0 0 0 0 1
TMEM70 0 0 1 0 0 1
TMEM94 0 0 1 0 0 1
TNRC18 0 0 1 0 0 1
TP53 0 1 0 0 0 1
TRAF3IP1 0 0 1 0 0 1
TRAPPC9 1 0 0 0 0 1
TRIM8 1 0 0 0 0 1
TUBB 0 1 0 0 0 1
TUBB2B 0 1 0 0 0 1
TUSC3 1 0 0 0 0 1
UBA1 0 0 1 0 0 1
UBA2 1 0 0 0 0 1
USH1C 1 0 0 0 0 1
USH2A 1 0 0 0 0 1
VARS2 0 1 0 0 0 1
VPS11 1 0 0 0 0 1
VPS33B 1 0 0 0 0 1
VRK1 0 1 0 0 0 1
WAS 0 0 1 0 0 1
WASHC5 0 0 1 0 0 1
WDFY3 0 0 1 0 0 1
WDPCP 0 0 1 0 0 1
WDR35 1 0 0 0 0 1
WDR81 0 0 1 0 0 1
WNT4 1 0 0 0 0 1
WT1 1 0 0 0 0 1
WWOX 1 0 0 0 0 1
XIAP 0 0 1 0 0 1
ZIC3 0 0 1 0 0 1
ZMIZ1 1 0 0 0 0 1
ZNF423 0 1 0 0 0 1
ZNF462 0 1 0 0 0 1
ZNF711 1 0 0 0 0 1
ZNF81 0 0 1 0 0 1
ZSWIM6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 649
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12 14 8 0 0 34
Kabuki syndrome 1 20 1 3 0 0 24
Anomalous pulmonary venous return 2 0 21 0 0 23
Diaphragmatic hernia 0 0 23 0 0 23
See cases 4 0 10 0 2 16
Neurodevelopmental disorder 15 0 0 0 0 15
Polycystic kidney disease 4 7 4 1 0 0 12
Vici syndrome 6 1 5 0 0 12
Congenital diaphragmatic hernia 7 2 2 0 0 11
CHARGE syndrome 8 0 2 0 0 10
Donnai-Barrow syndrome 0 1 9 0 0 10
BAZ2B-related disorder 4 4 0 0 0 8
CPLANE1-related disorder 5 0 3 0 0 8
Intellectual disability, autosomal dominant 14 4 0 4 0 0 8
Polycystic kidney disease, adult type 3 0 5 0 0 8
TTN-related disorder 2 0 6 0 0 8
Rubinstein-Taybi syndrome due to CREBBP mutations 4 2 1 0 0 7
Intellectual disability, X-linked 102 2 4 0 0 0 6
Intellectual disability, autosomal dominant 16 1 5 0 0 0 6
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 4 0 2 0 0 6
MED12-Related Disorders 3 2 1 0 0 6
Mowat-Wilson syndrome 5 0 1 0 0 6
NOTCH1-related disorder 2 0 4 0 0 6
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 3 1 2 0 0 6
SEMA6A-Related Disorder 0 1 5 0 0 6
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 5 0 0 5
Autosomal recessive nonsyndromic hearing loss 3 0 0 5 0 0 5
COL4A1-related disorder 0 3 2 0 0 5
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 0 4 0 0 5
Intellectual disability, X-linked 99, syndromic, female-restricted 3 1 1 0 0 5
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 5 0 0 5
KBG syndrome 5 0 0 0 0 5
Lissencephaly due to TUBA1A mutation 1 3 1 0 0 5
NPHP3-related disorder 4 0 1 0 0 5
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2 1 2 0 0 5
WDTC1-related disorder 0 1 4 0 0 5
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 2 0 0 4
Asphyxiating thoracic dystrophy 3 1 1 2 0 0 4
Baraitser-Winter syndrome 1 1 3 0 0 0 4
Bardet-Biedl syndrome 1 2 0 2 0 0 4
Cardiac-urogenital syndrome 3 0 1 0 0 4
Cerebroretinal microangiopathy with calcifications and cysts 1 1 0 3 0 0 4
Coffin-Siris syndrome 1 4 0 0 0 0 4
Congenital muscular hypertrophy-cerebral syndrome 2 0 2 0 0 4
FOXG1 disorder 4 0 0 0 0 4
Fanconi anemia complementation group A 1 3 0 0 0 4
Galloway-Mowat syndrome 1 1 1 2 0 0 4
Intellectual disability, autosomal dominant 48 1 2 1 0 0 4
Intellectual disability, autosomal recessive 3 0 0 3 1 0 4
L1CAM-related disorder 2 0 2 0 0 4
Microcephaly 5, primary, autosomal recessive 3 0 1 0 0 4
POLG-related disorder 3 0 1 0 0 4
Pontocerebellar hypoplasia type 3 0 0 4 0 0 4
RYR1-related disorder 1 0 3 0 0 4
Sotos syndrome 1 0 3 0 0 4
8q24.3 microdeletion syndrome 2 0 1 0 0 3
ALG12-congenital disorder of glycosylation 3 0 0 0 0 3
AMPD2-related disorder 0 0 3 0 0 3
Adams-Oliver syndrome 2 1 0 2 0 0 3
Adrenoleukodystrophy 0 1 2 0 0 3
CEP290-related disorder 1 0 2 0 0 3
COL11A2-related disorder 0 1 2 0 0 3
COL4A3-related disorder 0 1 2 0 0 3
Chromosome 15q11.2 deletion syndrome 0 0 3 0 0 3
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 1 0 0 0 3
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 1 0 2 0 0 3
FG syndrome 1 0 0 3 0 0 3
FGFR3-related disorder 2 0 1 0 0 3
FLNA-related disorder 1 0 2 0 0 3
Fanconi anemia complementation group D1 3 0 0 0 0 3
Fanconi anemia complementation group D2 2 0 1 0 0 3
GLI2-related disorder 2 0 1 0 0 3
Glycine encephalopathy 1 2 0 1 0 0 3
Houge-Janssens syndrome 2 3 0 0 0 0 3
Hypotonia with lactic acidemia and hyperammonemia 2 0 1 0 0 3
Intellectual disability, X-linked 93 1 0 2 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 1 0 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 3 0 0 0 0 3
Joubert syndrome 21 3 0 0 0 0 3
KAT6B-related disorder 3 0 0 0 0 3
KIF7-related disorder 3 0 0 0 0 3
Kleefstra syndrome 2 0 0 3 0 0 3
MKKS-related disorder 1 0 2 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 3 0 0 0 0 3
Microcephalic osteodysplastic primordial dwarfism type II 0 1 2 0 0 3
Microcephaly and chorioretinopathy 1 2 0 1 0 0 3
Nonspecific Intellectual Disability 2 1 0 0 0 3
PNPT1-related disorder 0 1 2 0 0 3
PTPN11-related disorder 3 0 0 0 0 3
RECQL4-related disorder 0 0 3 0 0 3
SCN1A-related disorder 0 0 3 0 0 3
Smith-Lemli-Opitz syndrome 3 0 0 0 0 3
Stromme syndrome 2 0 1 0 0 3
Syndromic X-linked intellectual disability 34 3 0 0 0 0 3
TBL1XR1-related disorder 1 0 2 0 0 3
Wiedemann-Steiner syndrome 0 2 1 0 0 3
ZTTK syndrome 2 1 0 0 0 3
ACE-related disorder 0 0 2 0 0 2
APOB-related disorder 2 0 0 0 0 2
ARID1B-Related Disorder 2 0 0 0 0 2
ATP6AP2-related disorder 0 0 2 0 0 2
ATP6VOA2-related disorder 0 0 2 0 0 2
ATRX-related disorder 1 0 1 0 0 2
Acrocallosal syndrome 0 0 2 0 0 2
Alagille syndrome due to a JAG1 point mutation 1 0 1 0 0 2
Aminoacylase 1 deficiency 0 1 1 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 1 1 0 0 0 2
Autosomal dominant Robinow syndrome 3 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 21 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 1 0 2
BRAT1-related disorder 0 1 0 1 0 2
Bardet-Biedl syndrome 10 2 0 0 0 0 2
Bohring-Opitz syndrome 2 0 0 0 0 2
Branchiooculofacial syndrome 0 2 0 0 0 2
Branchiootorenal syndrome 2 0 0 2 0 0 2
CC2D2A-related disorder 2 0 0 0 0 2
CHIME syndrome 1 1 0 0 0 2
COG1 congenital disorder of glycosylation 0 0 2 0 0 2
CTNNB1-related disorder 1 1 0 0 0 2
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 1 0 0 2
Cardiac, facial, and digital anomalies with developmental delay 1 1 0 0 0 2
Cenani-Lenz syndactyly syndrome 0 0 2 0 0 2
Cerebrooculofacioskeletal syndrome 3 2 0 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 0 1 1 0 2
Cobalamin C disease 2 0 0 0 0 2
Cobblestone lissencephaly without muscular or ocular involvement 0 0 2 0 0 2
Coffin-Siris syndrome 8 0 0 2 0 0 2
Cohen syndrome 0 0 2 0 0 2
Cornea plana 2 0 0 2 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 0 2
Cortical dysplasia, complex, with other brain malformations 10 0 0 2 0 0 2
D-Glyceric aciduria 0 1 1 0 0 2
DPYD-related disorder 2 0 0 0 0 2
DSTYK-related disroder 0 0 2 0 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 0 0 2
Deficiency of iodide peroxidase 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 2 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 77 1 1 0 0 0 2
Developmental delay with or without dysmorphic facies and autism 1 1 0 0 0 2
Diaphragmatic hernia 3 2 0 0 0 0 2
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 2 0 0 2
Dubin-Johnson syndrome 0 0 2 0 0 2
EVC-related disorder 0 0 2 0 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 2 0 0 2
Esophageal atresia/tracheoesophageal fistula 0 0 2 0 0 2
FAT4-related disorder 0 0 2 0 0 2
FKRP-related disorder 0 1 1 0 0 2
FREM2-related disorder 0 0 2 0 0 2
Fanconi anemia complementation group I 1 0 1 0 0 2
Fanconi anemia complementation group J 2 0 0 0 0 2
Fanconi anemia complementation group O 0 0 2 0 0 2
Fanconi anemia complementation group P 0 0 2 0 0 2
Focal dermal hypoplasia 2 0 0 0 0 2
Fraser syndrome 1 1 0 1 0 0 2
GNAI1-related disorder 0 0 2 0 0 2
GNPTAB-Related Disorders 2 0 0 0 0 2
GREB1L-related disorder 0 1 1 0 0 2
Geleophysic dysplasia 1 0 0 2 0 0 2
Ghosal hematodiaphyseal dysplasia 0 0 2 0 0 2
HBB-related disorder 2 0 0 0 0 2
HRAS-related disorder 1 0 1 0 0 2
HSD17B4-related disorder 0 0 2 0 0 2
HSPG2-realted disorder 0 0 2 0 0 2
Hereditary insensitivity to pain with anhidrosis 1 0 1 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 1 0 0 2
Hyperphenylalaninemia due to DNAJC12 deficiency 1 0 1 0 0 2
Hypoparathyroidism, deafness, renal disease syndrome 1 0 1 0 0 2
Ichthyosis vulgaris 2 0 0 0 0 2
Infantile liver failure syndrome 1 0 0 2 0 0 2
Intellectual developmental disorder with autism and macrocephaly 0 0 2 0 0 2
Intellectual disability, autosomal dominant 15 2 0 0 0 0 2
Intellectual disability-strabismus syndrome 1 1 0 0 0 2
Joubert syndrome 3 0 2 0 0 0 2
Joubert syndrome 6 0 0 2 0 0 2
KIF14-related disorder 0 0 2 0 0 2
KLHL7-related disorder 2 0 0 0 0 2
KRAS-related disorder 2 0 0 0 0 2
Kleefstra syndrome 1 1 0 1 0 0 2
Kostmann syndrome 1 0 1 0 0 2
Left ventricular noncompaction 1 0 0 2 0 0 2
Leukocyte adhesion deficiency type II 1 0 1 0 0 2
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 1 0 0 2
MECP2-related disorder 1 0 1 0 0 2
MKS1-related disorder 2 0 0 0 0 2
MTOR-related disorder 1 1 0 0 0 2
Methylmalonic acidemia with homocystinuria, type cblX 0 0 2 0 0 2
Microcephaly 3, primary, autosomal recessive 1 0 1 0 0 2
Microcephaly 4, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 8, primary, autosomal recessive 2 0 0 0 0 2
Microphthalmia, syndromic 12 1 1 0 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 1 0 1 0 0 2
Mucopolysaccharidosis, MPS-II 0 0 2 0 0 2
Mullegama-Klein-Martinez syndrome 1 0 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0 0 2 0 0 2
Myopathy, centronuclear, 5 0 0 2 0 0 2
NPHP4-related disorder 0 0 2 0 0 2
Nemaline myopathy 2 0 1 1 0 0 2
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 1 1 0 0 2
Neuroocular syndrome 2 0 0 0 0 2
Nijmegen breakage syndrome-like disorder 2 0 0 0 0 2
Noonan syndrome 1 2 0 0 0 0 2
Oculocerebrofacial syndrome, Kaufman type 1 0 1 0 0 2
Oculofaciocardiodental syndrome 0 0 2 0 0 2
Okur-Chung neurodevelopmental syndrome 0 2 0 0 0 2
Orofaciodigital syndrome type 14 0 0 1 0 1 2
PMM2-congenital disorder of glycosylation 1 0 1 0 0 2
POR-related disorder 2 0 0 0 0 2
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 2 0 0 2
Pitt-Hopkins syndrome 2 0 0 0 0 2
Primrose syndrome 0 1 1 0 0 2
Propionic acidemia 2 0 0 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 2 0 0 0 0 2
SCLT1-related disorder 0 0 2 0 0 2
SLC25A1-related disorder 0 0 2 0 0 2
SLC5A6-related disorder 0 1 1 0 0 2
Sandhoff disease 1 0 1 0 0 2
Senior-Loken syndrome 5 2 0 0 0 0 2
Shprintzen-Goldberg syndrome 0 0 2 0 0 2
Sitosterolemia 2 1 0 1 0 0 2
Sjögren-Larsson syndrome 1 0 1 0 0 2
TNXB-related disorder 0 0 2 0 0 2
TUBB3-related disorder 2 0 0 0 0 2
Townes-Brocks syndrome 1 1 0 1 0 0 2
Transketolase deficiency 0 0 2 0 0 2
UBA2-related disorder 2 0 0 0 0 2
VWF-related disorder 0 0 2 0 0 2
Warburg micro syndrome 1 2 0 0 0 0 2
X-linked Opitz G/BBB syndrome 1 0 1 0 0 2
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 1 1 0 0 2
X-linked intellectual disability, Stocco dos Santos type 0 0 2 0 0 2
11p13p14 deletion 1 0 0 0 0 1
16p12.3p13.12 deletion 1 0 0 0 0 1
16p13.1 duplication 1 0 0 0 0 1
22q11.2 central deletion syndrome 0 0 1 0 0 1
3MC syndrome 2 0 0 1 0 0 1
3p25.3p26.3 deletion 1 0 0 0 0 1
5-Oxoprolinase deficiency 0 0 1 0 0 1
6q14.1q15 deletion 1 0 0 0 0 1
ACTG1-related disorder 0 1 0 0 0 1
ARHGEF6-related disorder 0 0 1 0 0 1
ASCC1-related disorder 1 0 0 0 0 1
ASXL1-related disorder 1 0 0 0 0 1
ATP7A-realted disorder 0 0 1 0 0 1
Achromatopsia 3 1 0 0 0 0 1
Achromatopsia 7 0 0 1 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 1
Adams-Oliver syndrome 5 0 0 1 0 0 1
Adenylosuccinate lyase deficiency 1 0 0 0 0 1
Al Kaissi syndrome 0 1 0 0 0 1
Al-Raqad syndrome 0 0 1 0 0 1
Alexander disease 1 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 1
Aminoaciduria 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arterial tortuosity syndrome 0 0 1 0 0 1
Atrial septal defect 2; Ventricular septal defect 1 1 0 0 0 0 1
Atrial septal defect 6 0 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 0 1
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 15 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 93 0 0 1 0 0 1
Autosomal recessive osteopetrosis 1 1 0 0 0 0 1
BAG3-related disorder 1 0 0 0 0 1
BBS2-related disorder 1 0 0 0 0 1
BCS1L-related disorder 1 0 0 0 0 1
BMPR2-related disorder 1 0 0 0 0 1
BRCA2-related disorder 1 0 0 0 0 1
Baraitser-winter syndrome 2 1 0 0 0 0 1
Bardet-Biedl syndrome 2 1 0 0 0 0 1
Bardet-Biedl syndrome 4 1 0 0 0 0 1
Bardet-Biedl syndrome 9 0 0 1 0 0 1
Bartter disease type 2 1 0 0 0 0 1
Beck-Fahrner syndrome 0 1 0 0 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 1
Brachydactyly-syndactyly syndrome 0 0 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 0 1 0 0 1
C syndrome 0 0 1 0 0 1
CACNA1C-related disorder 0 0 1 0 0 1
CBL-related disorder 1 0 0 0 0 1
CDKN1C-related disorder 1 0 0 0 0 1
CEP20-related disorder 1 0 0 0 0 1
CFH-related disorder 0 0 1 0 0 1
CHD7-related CHARGE syndrome 1 0 0 0 0 1
CHRNE-related disorder 1 0 0 0 0 1
CNTNAP1-related disorder 1 0 0 0 0 1
COG4-related disorder 1 0 0 0 0 1
COG6-congenital disorder of glycosylation 1 0 0 0 0 1
COG7 congenital disorder of glycosylation 0 0 1 0 0 1
CPA6-related disorder 0 1 0 0 0 1
CREBBP-related disorder 1 0 0 0 0 1
CTNS-related disorder 1 0 0 0 0 1
CUL3-related disorder 1 0 0 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 1 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Carnitine palmitoyl transferase 1A deficiency 1 0 0 0 0 1
Cataract 18 1 0 0 0 0 1
Catifa syndrome 1 0 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 0 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 1 0 0 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 0 0 0 1
Chromosome 19p13.13 deletion syndrome 1 0 0 0 0 1
Classic homocystinuria 1 0 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 27 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 0 0 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 1 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 1
Congenital central hypoventilation 0 1 0 0 0 1
Congenital disorder of deglycosylation 1 0 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 0 1
Congenital heart defects, multiple types, 2 0 0 1 0 0 1
Congenital heart defects, multiple types, 7 1 0 0 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 1 0 0 1
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 0 0 1 0 0 1
Cortisone reductase deficiency 2 0 0 1 0 0 1
Cowden syndrome 1 1 0 0 0 0 1
Craniofrontonasal syndrome 1 0 0 0 0 1
Currarino triad 0 1 0 0 0 1
Cystinuria 0 0 1 0 0 1
DCX-related disorder 0 0 1 0 0 1
DMD-related disorder 0 0 1 0 0 1
DNAH11-related disorder 0 0 1 0 0 1
DPYSL5-related disorder 1 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 0 0 1 0 0 1
Developmental and epileptic encephalopathy 96 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 27 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 34 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 50 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 75 0 0 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 1 0 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 0 0 0 1
Dextro-looped transposition of the great arteries 0 0 1 0 0 1
Diamond-Blackfan anemia 1 1 0 0 0 0 1
Diaphragmatic eventration 0 0 1 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 0 1
Distichiasis-lymphedema syndrome 1 0 0 0 0 1
Drash syndrome 1 0 0 0 0 1
Duane-radial ray syndrome 1 0 0 0 0 1
Dyskeratosis congenita, X-linked 0 0 0 1 0 1
EDAR-related disorder 0 0 1 0 0 1
EP300-related disorder 1 0 0 0 0 1
ERBB3-related disorder 0 1 0 0 0 1
ERF-related disorder 0 1 0 0 0 1
ESCO2-related disorder 0 0 1 0 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 0 1 0 0 1
Ectodermal dysplasia and immunodeficiency 2 0 1 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 0 0 1
Epidermolysis bullosa simplex 7, with nephropathy and deafness 1 0 0 0 0 1
Esophageal atresia 0 0 1 0 0 1
Exostoses, multiple, type 1 0 0 1 0 0 1
FANCM-related disorder 0 0 1 0 0 1
FGFR1-related disorder 0 0 1 0 0 1
FGFR2-realated disorder 0 0 1 0 0 1
FIG4-related disorder 1 0 0 0 0 1
FN1-related disorder 0 0 1 0 0 1
FREM1-related disorder 0 0 1 0 0 1
FZD5-related disorder 0 0 1 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 1 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 0 1
Familial temporal lobe epilepsy 5 0 0 1 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 1
Fanconi anemia complementation group G 1 0 0 0 0 1
Fanconi anemia complementation group L 0 0 1 0 0 1
Fanconi anemia complementation group R 0 1 0 0 0 1
Feingold syndrome type 1 0 0 1 0 0 1
Focal facial dermal dysplasia type IV 0 1 0 0 0 1
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 0 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 1
GJB2-related disorder 1 0 0 0 0 1
GLB1-related disorder 1 0 0 0 0 1
GLI3-related disorder 1 0 0 0 0 1
GMPPB-related disorder 1 0 0 0 0 1
GNB5-reled disorder 1 0 0 0 0 1
GNE-related disorder 1 0 0 0 0 1
GRIN2B-related disorder 0 0 1 0 0 1
Giant axonal neuropathy 1 1 0 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 1 0 0 1
Gordon syndrome 0 0 1 0 0 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 1 0 0 0 1
HDAC3-related disorder 0 0 1 0 0 1
HDAC4-related disorder 0 0 1 0 0 1
HNF1B-related disorder 1 0 0 0 0 1
HOXA1-related disorder 0 0 1 0 0 1
HSPG2-related disorder 0 1 0 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 0 1
Hearing loss, autosomal dominant 72 0 0 1 0 0 1
Hereditary spastic paraplegia 11 1 0 0 0 0 1
Hereditary spastic paraplegia 49 0 0 1 0 0 1
Hereditary spherocytosis type 2 0 0 1 0 0 1
Heterotaxy, visceral, 8, autosomal 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 1
Holoprosencephaly 10 0 0 1 0 0 1
Holt-Oram syndrome 0 0 1 0 0 1
Houge-Janssens syndrome 1 1 0 0 0 0 1
Hyperlysinemia 0 1 0 0 0 1
Hyperprolinemia type 2 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 1
Hypomyelinating leukodystrophy 12 1 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 0 1
INSR-related disorder 0 0 1 0 0 1
Idiopathic basal ganglia calcification 1 1 0 0 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 1 0 0 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 1 0 0 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 1 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 30 0 0 1 0 0 1
Intellectual disability, X-linked 97 1 0 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 3 0 0 1 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 0 1
Intellectual disability, autosomal recessive 5 1 0 0 0 0 1
Intellectual disability, autosomal recessive 53 1 0 0 0 0 1
Intellectual disability, autosomal recessive 65 0 0 1 0 0 1
Intellectual disability, autosomal recessive 7 1 0 0 0 0 1
Iodotyrosyl coupling defect 1 0 0 0 0 1
JAG1-related disorder 0 0 1 0 0 1
Joubert syndrome 13 0 1 0 0 0 1
Joubert syndrome 16 1 0 0 0 0 1
KAT6B-realted disoder 1 0 0 0 0 1
KCNQ1-related disorder 1 0 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 0 1
KIF1A-related disorder 1 0 0 0 0 1
KIT-related disorder 0 0 1 0 0 1
KMT2B-related disorder 0 1 0 0 0 1
Kabuki syndrome 2 1 0 0 0 0 1
Keipert syndrome 0 0 1 0 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 1 0 0 0 0 1
Knobloch syndrome 1 1 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
LMX1B-related disorder 0 0 1 0 0 1
LRP4-related disorder 1 0 0 0 0 1
Lamb-Shaffer syndrome 0 0 1 0 0 1
Left ventricular noncompaction 7 0 0 1 0 0 1
Linear skin defects with multiple congenital anomalies 1 0 1 0 0 0 1
Lipoyl transferase 1 deficiency 1 0 0 0 0 1
Luscan-Lumish syndrome 1 0 0 0 0 1
Lynch syndrome 4 1 0 0 0 0 1
MBTPS2-related disorder 0 0 1 0 0 1
MED13L-related disorder 1 0 0 0 0 1
MF5D8-related disorder 0 0 1 0 0 1
MHC class I deficiency 1 0 1 0 0 0 1
MTFMT-related disorder 1 0 0 0 0 1
MYPN-related disorder 0 0 1 0 0 1
McKusick-Kaufman syndrome 1 0 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 1
Meier-Gorlin syndrome 1 1 0 0 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 0 1
Microcephaly 1, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly 16, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 18, primary, autosomal dominant 0 0 1 0 0 1
Microcephaly 7, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 1 0 0 0 0 1
Microphthalmia, isolated, with coloboma 7 0 0 1 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 11 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 21 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 29 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 4 0 0 1 0 0 1
Mitochondrial complex II deficiency, nuclear type 1 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 7 0 0 1 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 0 1 0 0 1
Multicentric osteolysis, nodulosis, and arthropathy 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 0 0 0 0 1
Multiple sulfatase deficiency 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 0 0 1 0 0 1
NAA10-related disorder 1 0 0 0 0 1
NF1-related disorder 0 0 1 0 0 1
NKX2-1-Related Disorders 1 0 0 0 0 1
NOTCH2-related disorder 0 0 1 0 0 1
NR2F2-related disorder 0 1 0 0 0 1
Nager syndrome 0 0 1 0 0 1
Nail-patella syndrome 0 0 1 0 0 1
Nemaline myopathy 6 0 0 1 0 0 1
Nemaline myopathy 8 0 1 0 0 0 1
Neonatal severe primary hyperparathyroidism 0 0 1 0 0 1
Nephronophthisis 16 0 0 1 0 0 1
Nephrotic syndrome, type 2 1 0 0 0 0 1
Nephrotic syndrome, type 3 1 0 0 0 0 1
Neu-Laxova syndrome 2 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 1 0 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 1 0 0 1
Neurofibromatosis, type 1 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 0 1
Niemann-Pick disease, type C2 0 0 1 0 0 1
Noonan syndrome 4 0 0 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 1
OFD1-related disorder 0 0 1 0 0 1
OTX2-related disorder 1 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 1
Oculodentodigital dysplasia 1 0 0 0 0 1
Optic atrophy 9 1 0 0 0 0 1
Osteogenesis imperfecta type 6 1 0 0 0 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 0 1
PAH-related disorder 1 0 0 0 0 1
PAX6-related disorder 1 0 0 0 0 1
PDHA1-related disorder 0 0 1 0 0 1
PDZD2-related disorder 0 0 1 0 0 1
PEX12-related disorder 1 0 0 0 0 1
PHOX2B-related disorder 1 0 0 0 0 1
PIEZO2-related disorder 0 0 1 0 0 1
PIK3C1-related disorder 1 0 0 0 0 1
PIK3CA-related disorder 1 0 0 0 0 1
PLN-related disorder 1 0 0 0 0 1
POLR1A-related disorder 0 1 0 0 0 1
POMT1-related disorder 0 1 0 0 0 1
PSMA7-related disorder 0 0 1 0 0 1
PTCH1-related disorder 0 0 1 0 0 1
PYCR1-related disorder 1 0 0 0 0 1
Pendred syndrome 1 0 0 0 0 1
Periventricular nodular heterotopia 7 0 1 0 0 0 1
Perlman syndrome 0 0 1 0 0 1
Pitt-Hopkins-like syndrome 2 0 0 1 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Pontocerebellar hypoplasia type 1A 0 1 0 0 0 1
Pontocerebellar hypoplasia type 8 1 0 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 0 0 0 0 1
Primary ciliary dyskinesia 17 1 0 0 0 0 1
Primary ciliary dyskinesia 3 0 0 1 0 0 1
Primary ciliary dyskinesia 5 0 0 1 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 1
Prolidase deficiency 0 0 1 0 0 1
Pyruvate carboxylase deficiency 0 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 0 1
RAB23-related Carpenter syndrome 1 0 0 0 0 1
RAPSN-related disorder 1 0 0 0 0 1
RBBP8-related disorder 0 1 0 0 0 1
RET-related disorder 0 0 1 0 0 1
ROGRIP1L-related disorder 1 0 0 0 0 1
RP56KA3-related disorder 0 0 1 0 0 1
RTEL1-related disorder 1 0 0 0 0 1
RYR2-related disorder 1 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 1
Renal coloboma syndrome 1 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 1
Rett syndrome 1 0 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 0 1
SALL4-Related Disorders 0 0 1 0 0 1
SAMD9-related disorder 0 1 0 0 0 1
SCN2A-related disorder 0 0 1 0 0 1
SCN5A-related disorder 0 0 1 0 0 1
SCN8A-related disorder 0 0 1 0 0 1
SERKAL syndrome 1 0 0 0 0 1
SETBP1-related disorder 0 0 1 0 0 1
SETD1A-related disorder 1 0 0 0 0 1
SH2B1-related disorder 0 0 1 0 0 1
SH3TC2-related disorder 1 0 0 0 0 1
SHH-related disorder 1 0 0 0 0 1
SHORT syndrome 0 1 0 0 0 1
SMAD4-related disorder 1 0 0 0 0 1
SMAD6-related disease 0 0 1 0 0 1
SMARCB1-related disorder 1 0 0 0 0 1
SMC1A-related disorder 0 0 1 0 0 1
SRD5A3-congenital disorder of glycosylation 0 0 1 0 0 1
SRD5A3-related disorder 1 0 0 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Senior-Loken syndrome 4 0 0 1 0 0 1
Senior-Loken syndrome 9 0 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 1 0 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Split-foot malformation-mesoaxial polydactyly syndrome 1 0 0 0 0 1
Spondylocostal dysostosis 5 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 0 1 0 0 1
Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 1 0 0 0 1
Syndromic X-linked intellectual disability Hedera type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 0 0 0 1
TARP syndrome 1 0 0 0 0 1
TBCE-related disorder 1 0 0 0 0 1
TCF12-related craniosynostosis 0 1 0 0 0 1
TCTN3-related disorder 1 0 0 0 0 1
TECTA-related disorder 0 0 1 0 0 1
TJP2-related disorder 1 0 0 0 0 1
TMEM231-related disorder 1 0 0 0 0 1
TNN-related disorder 1 0 0 0 0 1
TNRC18-related disorder 0 0 1 0 0 1
TP53-related disorder 0 1 0 0 0 1
TREX1-related disorder 1 0 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Teebi hypertelorism syndrome 1 0 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Temtamy syndrome 1 0 0 0 0 1
Tetralogy of Fallot 0 0 1 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Thrombocytopenia 6 0 0 1 0 0 1
UBA1-related disorder 0 0 1 0 0 1
USH1C-related disorder 1 0 0 0 0 1
USH2A-related disorder 1 0 0 0 0 1
Ulnar-mammary syndrome 0 1 0 0 0 1
VHL-related disorder 1 0 0 0 0 1
WAS-related disorder 0 0 1 0 0 1
WASHC5-related disorder 0 0 1 0 0 1
WDPCP-related disorder 0 0 1 0 0 1
WDR35-related disorder 1 0 0 0 0 1
WNT7A-related disoder 0 0 1 0 0 1
WWOX-related diosrder 1 0 0 0 0 1
Warburg micro syndrome 2 1 0 0 0 0 1
Weiss-Kruszka syndrome 0 1 0 0 0 1
Williams syndrome 1 0 0 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 1 0 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 0 0 1 0 0 1
X-linked progressive cerebellar ataxia 0 0 1 0 0 1
X-linked sideroblastic anemia 1 0 0 1 0 0 1
ZIC3-related disorder 0 0 1 0 0 1
ZNF423-related disorder 0 1 0 0 0 1
ZNF81-related disorder 0 0 1 0 0 1

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