ClinVar Miner

Variants from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Location: United States  Primary collection method: research
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
348 354 271 240 13 3 1223

Gene and significance breakdown #

Total genes and gene combinations: 559
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association total
BRCA1 0 6 0 101 5 0 112
TP53 0 6 0 69 0 0 75
PTEN 0 0 1 65 1 0 67
ROR2 8 16 0 0 0 0 24
GREB1L 3 0 14 0 0 0 17
LRP6 2 5 7 0 0 0 14
SPAST 14 0 0 0 0 0 14
PLXNA1 0 8 4 0 0 0 12
DVL1 9 2 0 0 0 0 11
ACTG2 10 0 0 0 0 0 10
NIPBL 10 0 0 0 0 0 10
LGI3 9 0 0 0 0 0 9
ODAD2 9 0 0 0 0 0 9
STAT3 9 0 0 0 0 0 9
DHX37 0 8 0 0 0 0 8
DVL3 6 2 0 0 0 0 8
TBC1D24 8 0 0 0 0 0 8
ECEL1 3 2 2 0 0 0 7
MFN2 4 3 0 0 0 0 7
NTNG2 0 7 0 0 0 0 7
TCEAL1 0 6 1 0 0 0 7
DICER1 6 0 0 0 0 0 6
DSTYK 0 0 6 0 0 0 6
FZD2 2 4 0 0 0 0 6
RYR2 0 0 6 0 0 0 6
TBX6 6 0 0 0 0 0 6
ABCA4 1 4 0 0 0 0 5
ASPM 0 5 0 0 0 0 5
DDX54 0 4 1 0 0 0 5
NR2F1 3 4 0 0 0 0 5
POGZ 5 0 0 0 0 0 5
RHBDF1 0 0 5 0 0 0 5
TNR 0 0 5 0 0 0 5
TUBB2B 1 4 0 0 0 0 5
VPS13B 1 2 2 0 0 0 5
WDR83, WDR83OS 5 0 0 0 0 0 5
WNT5A 0 5 0 0 0 0 5
ZIC3 5 0 0 0 0 0 5
​intergenic 1 1 0 0 2 0 4
AHDC1 4 0 0 0 0 0 4
ARID1B 4 0 0 0 0 0 4
CHRNG 2 2 0 0 0 0 4
COPA 4 0 0 0 0 0 4
DHX16 0 4 0 0 0 0 4
DVL1, LOC129929114 1 3 0 0 0 0 4
EMC1 1 1 3 0 0 0 4
FGD1 2 2 0 0 0 0 4
IGSF10 0 0 4 0 0 0 4
KLHL7 3 1 0 0 0 0 4
LRBA, MAB21L2 0 4 0 0 0 0 4
MYBPC2 0 0 4 0 0 0 4
NODAL 1 2 1 0 0 0 4
PGM3 4 0 0 0 0 0 4
PRDM16 0 0 4 0 0 0 4
PRUNE1 0 4 0 0 0 0 4
RYR3 0 0 4 0 0 0 4
SLC13A5 4 0 0 0 0 0 4
SYNE1 1 2 1 0 0 0 4
TNK2 0 1 3 0 0 0 4
TTN 2 2 0 0 0 0 4
ABCA7 0 0 2 1 0 0 3
ANK2 0 0 3 0 0 0 3
ANTXR1 0 3 0 0 0 0 3
ASTN1 0 1 2 0 0 0 3
BMP7 0 0 3 0 0 0 3
CDH4 0 1 2 0 0 0 3
CHD1L 0 0 3 0 0 0 3
COL6A3 2 0 1 0 0 0 3
CRX 3 0 0 0 0 0 3
DDX3X 3 0 0 0 0 0 3
DHX30 3 0 0 0 0 0 3
DHX34 0 3 0 0 0 0 3
GLDC 2 1 0 0 0 0 3
GRM7 0 3 0 0 0 0 3
HAL 0 0 0 0 0 3 3
IGHMBP2 2 1 0 0 0 0 3
JUP 0 1 2 0 0 0 3
KCNQ1 0 2 1 0 0 0 3
MCM8 1 0 2 0 0 0 3
MCM9 1 0 1 1 0 0 3
MYBPC3 0 0 3 0 0 0 3
MYH14 1 0 2 0 0 0 3
MYO18B 0 1 2 0 0 0 3
NPR2 1 2 0 0 0 0 3
NSRP1 3 0 0 0 0 0 3
REST 0 3 0 0 0 0 3
ROBO2 0 0 3 0 0 0 3
SMC1A 3 0 0 0 0 0 3
UNC80 0 3 0 0 0 0 3
VCL 0 0 3 0 0 0 3
VRK1 3 0 0 0 0 0 3
ABCC9 0 1 1 0 0 0 2
ACTC1, GJD2-DT 0 1 1 0 0 0 2
ACVR2B 0 0 2 0 0 0 2
AKAP9 0 0 2 0 0 0 2
ALG12 2 0 0 0 0 0 2
ANKLE2 1 1 0 0 0 0 2
ANKRD11 2 0 0 0 0 0 2
ANOS1 0 0 2 0 0 0 2
AP4B1 0 2 0 0 0 0 2
ARHGEF6, CD40LG, GPR101, RBMX, VGLL1 2 1 0 0 0 0 2
ASIC4, SPEG 0 0 2 0 0 0 2
ATAD3A 1 1 1 0 0 0 2
ATRX 0 2 0 0 0 0 2
CACNA1C 0 0 2 0 0 0 2
CACNA1H 0 2 0 0 0 0 2
CC2D1A 2 0 0 0 0 0 2
CDK10 0 2 0 0 0 0 2
CDK20 1 1 0 0 0 0 2
CHD7 1 0 0 0 1 0 2
COL27A1 1 1 0 0 0 0 2
CSPP1 0 0 2 0 0 0 2
CTSA 2 0 0 0 0 0 2
DNAJB2 1 1 0 0 0 0 2
DNM2 0 2 0 0 0 0 2
DPP6 0 0 2 0 0 0 2
DSP 0 0 2 0 0 0 2
EYA1 1 0 1 0 0 0 2
FBN3 0 0 1 1 0 0 2
FLNA 0 1 1 0 0 0 2
FLNC 0 0 2 0 0 0 2
FNIP1 0 0 2 0 0 0 2
GALC 0 2 0 0 0 0 2
GBE1 1 0 1 0 0 0 2
GNB5 2 0 0 0 0 0 2
GPHN, RDH11 2 0 0 0 0 0 2
GPIHBP1 2 0 0 0 0 0 2
GRIP1 0 2 0 0 0 0 2
HYDIN 0 0 2 0 0 0 2
IL7R 2 0 0 0 0 0 2
KCNH2 0 0 2 0 0 0 2
LAMA2 0 0 2 0 0 0 2
LAMA4 0 0 2 0 0 0 2
LAMA5 0 0 2 0 0 0 2
LIFR 2 0 0 0 0 0 2
LINGO4 0 0 2 0 0 0 2
LMNA 0 0 2 0 0 0 2
LOC126861106, TUBGCP2 0 0 2 0 0 0 2
LOC129933454, LOC129933455, SPAST 2 0 0 0 0 0 2
LOC129933455, SPAST 2 0 0 0 0 0 2
MACF1 0 0 2 0 0 0 2
MECP2 2 0 0 0 0 0 2
MIPEP 2 0 0 0 0 0 2
MMP21 1 1 0 0 0 0 2
MPZ 1 1 0 0 0 0 2
MTO1 0 2 0 0 0 0 2
MYH6 0 1 1 0 0 0 2
MYH7 0 1 1 0 0 0 2
MYO9A 0 0 2 0 0 0 2
MYOM3 0 0 1 1 0 0 2
NALCN 2 0 0 0 0 0 2
NGLY1 1 1 0 0 0 0 2
NXN 1 1 0 0 0 0 2
PAX2 1 0 1 0 0 0 2
PDGFRB 1 1 0 0 0 0 2
PGAP1 2 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 2
PLA2G6 0 2 0 0 0 0 2
PLEC 0 0 2 0 0 0 2
PLP1 2 0 0 0 0 0 2
PLP1, RAB9B 0 0 0 0 2 0 2
PLS3 2 0 0 0 0 0 2
PMP2 0 2 0 0 0 0 2
POLR1C 2 0 0 0 0 0 2
POMGNT1, TSPAN1 0 0 2 0 0 0 2
PTPRT 0 2 0 0 0 0 2
RAB28 2 0 0 0 0 0 2
RELN 0 0 2 0 0 0 2
RPS6KC1 0 2 0 0 0 0 2
RUBCN 2 0 0 0 0 0 2
SACS 0 2 0 0 0 0 2
SALL1 0 0 2 0 0 0 2
SCN5A 0 2 0 0 0 0 2
SH3TC2 1 1 0 0 0 0 2
SOHLH1 0 2 0 0 0 0 2
STIL 0 2 0 0 0 0 2
SURF1 2 0 0 0 0 0 2
TAF6 2 0 0 0 0 0 2
TPM2 1 1 0 0 0 0 2
TTC39A 0 0 2 0 0 0 2
TUBGCP2 1 0 1 0 0 0 2
USP19 2 0 0 0 0 0 2
VARS1 0 2 0 0 0 0 2
ZEB2 1 1 0 0 0 0 2
ZFYVE16 0 0 2 0 0 0 2
ZNF335 2 0 0 0 0 0 2
ZNF423 0 2 0 0 0 0 2
AADACL3, AADACL4, AGMAT, AGTRAP, ANGPTL7, ARHGEF19, C1orf167, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CIROZ, CLCN6, CLCNKA, CLCNKB, CORT, CPLANE2, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC16, DRAXIN, EFHD2, EPHA2, EXOSC10, FAM131C, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, KAZN, KIAA2013, KIF1B, LINC01647, LINC01784, LINC02766, LOC106501712, LOC106501713, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC114827827, LOC115801416, LOC120883623, LOC120893113, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC129929502, LOC129929503, LOC129929504, LOC129929505, LOC129929506, LOC129929507, LOC129929508, LOC129929509, LOC129929510, LOC129929511, LOC129929512, LOC129929513, LOC129929514, LOC129929515, LOC129929516, LOC129929517, LOC129929518, LOC129929519, LOC129929520, LOC129929521, LOC129929522, LOC129929523, LOC129929524, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LRRC38, MAD2L2, MASP2, MFN2, MIIP, MIR4632, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, NPPA, NPPB, PDPN, PEX14, PGD, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RNU5E-1, RSC1A1, SCARNA21B, SLC25A34, SNORA59A, SPEN, SRARP, SRM, TARDBP, TMEM51, TMEM82, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, UQCRHL, VPS13D, ZBTB17 0 1 0 0 0 0 1
AAK1, ADD2, ANKRD53, ANXA4, ASPRV1, ATP6V1B1, C2orf42, CD207, CLEC4F, FAM136A, FIGLA, GMCL1, LINC01143, LINC01816, LOC106783504, LOC112841595, LOC120961763, LOC120961764, LOC120961765, LOC122757965, LOC122757966, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC126806244, LOC126806245, LOC126806246, LOC126806247, LOC126806248, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, MCEE, MIR1285-2, MPHOSPH10, MXD1, NAGK, PCBP1, PCYOX1, SMANTIS, SNORA36C, SNRNP27, SNRPG, TEX261, TGFA, TGFA-IT1, TIA1, TRG-CCC2-1, VAX2 0 0 1 0 0 0 1
AAR2 0 1 0 0 0 0 1
AARS1 1 0 0 0 0 0 1
ABCB7, ACSL4, ACTRT1, ADGRG4, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARAF, ARHGAP36, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP1B4, ATP6AP2, ATP7A, ATRX, AWAT1, AWAT2, BCOR, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BMP15, BRS3, BRWD3, BTK, C1GALT1C1, CACNA1F, CAPN6, CASK, CCDC120, CCDC160, CCDC22, CCNB3, CD40LG, CDK16, CDX4, CENPI, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, COL4A5, COL4A6, COX7B, CPXCR1, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DDX3X, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELF4, ELK1, ENOX2, ERAS, ERCC6L, ESX1, FAAH2, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47C, FGD1, FGF16, FHL1, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HDAC6, HDAC8, HDX, HEPH, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HTATSF1, HTR2C, HUWE1, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INE1, INTS6L, IQSEC2, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, KRABD4, LAMP2, LANCL3, LAS1L, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAOA, MAOB, MAP7D3, MBNL3, MCTS1, MED12, MED14, MID1IP1, MID2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR424, MIR448, MIR502, MIR503, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTMR8, MTRNR2L10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PBDC1, PCDH11X, PCDH19, PCSK1N, PDZD11, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHF8, PHKA1, PIM2, PIN4, PJA1, PLAC1, PLP1, PLP2, PLS3, POF1B, PORCN, POU3F4, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRPS1, PRR32, PRRG1, PSMD10, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7, SMARCA1, SMC1A, SMIM10, SNORA11, SNX12, SOWAHD, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SRPX2, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUV39H1, SYN1, SYP, SYTL4, SYTL5, TAF1, TAF7L, TAF9B, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, UBA1, UBE2A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VCF2, VGLL1, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZXDA, ZXDB 1 0 0 0 0 0 1
ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586 1 0 0 0 0 0 1
ABR, DOC2B, GEMIN4, GLOD4, LIAT1, MRM3, NXN, RFLNB, RPH3AL, TIMM22, TLCD3A, VPS53 0 1 0 0 0 0 1
ACADM, AK5, ANKRD13C, ANKRD13C-DT, ASB17, C1orf141, CRYZ, CTH, DEPDC1, DIRAS3, DNAI4, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GNG12, IL12RB2, IL23R, LHX8, LINC01360, LINC01702, LINC01707, LINC01758, LINC01788, LINC02238, LINC02567, LINC02791, LINC02796, LINC03102, LOC101927342, LOC105378798, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC120893142, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LRRC40, LRRC53, LRRC7, LRRIQ3, MIER1, MIGA1, MIR1262, MIR186, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, PIGK, PTGER3, RABGGTB, RPE65, SERBP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, ST6GALNAC5, TNNI3K, TYW3, USP33, WLS, ZRANB2, ZRANB2-DT, ZZZ3 0 0 1 0 0 0 1
ACCS, ACCSL, ALKBH3, ALX4, API5, C11orf96, CD82, EXT2, HSD17B12, LINC02704, LOC110121482, LOC112081394, LOC113939922, LOC124433249, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, MIR129-2, MIR670, MIR670HG, TSPAN18, TTC17 0 0 1 0 0 0 1
ACO2, POLR3H 1 0 0 0 0 0 1
ACOT1, HEATR4 1 0 0 0 0 0 1
ACP6 0 1 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 1
ACTL6B 0 1 0 0 0 0 1
ACTN2 0 0 1 0 0 0 1
ADCY6 0 1 0 0 0 0 1
ADGRG6 0 0 1 0 0 0 1
ADNP 0 0 1 0 0 0 1
ADORA2B, ARHGAP44, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LINC02096, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LROMI1, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7 1 0 0 0 0 0 1
ADRA1B, ATP10B, C1QTNF2, CCNG1, CCNJL, EBF1, FABP6, FAM200C, GABRA1, GABRA6, GABRB2, GABRG2, HMMR, IL12B, LINC01202, LINC01845, LINC01847, LINC01932, LINC02143, LINC02159, LINC02202, LINC03000, LOC102546299, LOC110120620, LOC110120965, LOC110120995, LOC110120998, LOC112997574, LOC121099712, LOC123575608, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC285626, MAT2B, MIR146A, MIR3142, MIR3142HG, NUDCD2, PTTG1, PWWP2A, RNF145, SLU7, TTC1, UBLCP1 0 0 1 0 0 0 1
ADRM1, ARFGAP1, BHLHE23, BIRC7, CABLES2, CDH4, CHRNA4, COL20A1, COL9A3, CRMA, DIDO1, EEF1A2, FLJ16779, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, LAMA5, LINC00029, LINC00659, LINC01056, LINC01749, LINC02970, LOC100130587, LOC105369209, LOC105372710, LOC112694726, LOC112694727, LOC121627914, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LSM14B, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR3195, MIR3196, MIR4326, MIR4758, MRGBP, MTG2, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PSMA7, PTK6, RBBP8NL, RPS21, RPS21-DT, SLC17A9, SLCO4A1, SNORA117, SRMS, SS18L1, STMN3, TAF4, TCFL5, YTHDF1 0 0 1 0 0 0 1
ADTRP, EDN1, HIVEP1, LOC101928253, LOC105374928, LOC113146407, LOC121113497, LOC121740641, LOC123575670, LOC123575671, LOC126859589, LOC126859590, LOC129389442, LOC129995764, LOC129995765, LOC129995766, LOC129995767, LOC129995768, LOC129995769, LOC129995770, LOC129995771, LOC129995772, LOC129995773, LOC129995774, LOC129995775, LOC129995776, LOC129995777, LOC129995778, LOC129995779, LOC129995780, LOC129995781, LOC129995782, LOC129995783, LOC129995784, LOC129995785, LOC129995786, LOC129995787, LOC129995788, LOC129995789, LOC129995790, LOC129995791, LOC129995792, LOC129995793, LOC129995794, LOC129995795, LOC129995796, LOC129995797, LOC132090753, TMEM170B 0 0 1 0 0 0 1
AGBL2 0 1 0 0 0 0 1
AGPS, ATF2, ATP5MC3, CDCA7, CHN1, CHRNA1, CIRSR, CYBRD1, DCAF17, DLX1, DLX2, DYNC1I2, ERICH2, EVX2, GAD1, GORASP2, GPR155, HAT1, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA6, LNPK, MAP3K20, METAP1D, METTL8, MIR10B, MTX2, NFE2L2, OLA1, PDE11A, PDK1, RAPGEF4, SCRN3, SLC25A12, SP3, SP5, SP9, TLK1, WIPF1 1 0 0 0 0 0 1
AIFM1, RAB33A 0 1 0 0 0 0 1
AIMP1 1 0 0 0 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC129388799, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC440742, MIR4677, PLD5, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 1
ALDH7A1 0 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
AMOT 0 1 0 0 0 0 1
ANK3 0 1 0 0 0 0 1
ANKRD18B, ARID3C, CCL19, CCL21, CCL27, CNTFR, DCAF12, DCTN3, DNAI1, ENHO, FAM219A, GALT, IL11RA, KIF24, LOC113839546, LOC114022703, LOC121331325, LOC124252628, LOC124252629, LOC124252630, LOC126860617, LOC129390068, LOC129390069, LOC129390070, LOC129390071, LOC129390072, LOC130001657, LOC130001658, LOC130001659, LOC130001660, LOC130001661, LOC130001662, LOC130001663, LOC130001664, LOC130001665, LOC130001666, LOC130001667, LOC130001668, LOC130001669, LOC130001670, LOC130001671, LOC130001672, LOC130001673, LOC130001674, LOC130001675, LOC130001676, LOC130001677, LOC130001678, LOC130001679, LOC130001680, LOC130001681, LOC130001682, LOC130001683, LOC130001684, LOC130001685, LOC130001686, LOC730098, MYORG, NUDT2, PHF24, PRSS3, PTENP1, RPP25L, SIGMAR1, SNORD121A, SNORD121B, SPATA31F1, SPMIP6, UBAP1, UBAP2, UBE2R2 0 0 1 0 0 0 1
ANKRD37, UFSP2 0 1 0 0 0 0 1
ANKRD52, APOF, ATP5F1B, BAZ2A, CNPY2, COQ10A, CS, ERBB3, ESYT1, GLS2, HSD17B6, IKZF4, IL23A, LOC105369781, LOC112163613, LOC116268441, LOC121832836, LOC124629372, LOC124629373, LOC124629374, LOC124629375, LOC124629376, LOC126861536, LOC126861537, LOC129390463, LOC129390464, LOC129390465, LOC130008042, LOC130008043, LOC130008044, LOC130008045, LOC130008046, LOC130008047, LOC130008048, LOC130008049, LOC130008050, LOC130008051, LOC130008052, LOC130008053, LOC130008054, LOC130008055, LOC130008056, LOC130008057, LOC130008058, LOC130008059, LOC130008060, LOC130008061, LOC130008062, LOC130008063, LOC130008064, LOC130008065, LOC130008066, LOC130008067, LOC130008068, LOC130008069, LOC130008070, LOC130008071, LOC130008072, LOC130008073, LOC130008074, LOC130008075, LOC130008076, LOC130008077, LOC130008078, LOC130008079, LOC130008080, LOC130008081, LOC130008082, LOC130008083, LOC130008084, LOC130008085, LOC130008086, LOC130008087, LOC130008088, LOC130008089, LOC130008090, LOC130008091, LOC130008092, LOC130008093, LOC130008094, LOC130008095, LOC130008096, LOC130008097, LOC130008098, LOC130008099, LOC130008100, LOC130008101, LOC130008102, LOC130008103, LOC130008104, LOC130008105, LOC132090122, LOC132090123, LOC132090124, LOC132090125, LOC132090126, LOC132090127, LOC132090128, LOC132090848, LOC132090849, MIP, MYL6, MYL6B, NABP2, NACA, PA2G4, PAN2, PRIM1, PTGES3, RAB5B, RBMS2, RNF41, RPL41, RPS26, SLC39A5, SMARCC2, SNORA105C, SNORD59A, SNORD59B, SPRYD4, STAT2, SUOX, TIMELESS, TRS-CGA4-1, ZC3H10 0 0 1 0 0 0 1
AP1G1, CALB2, CHST4, CMTR2, HYDIN, LINC02136, LOC105371335, LOC111413029, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC125177348, LOC126862388, LOC126862389, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC132090391, MARVELD3, PHLPP2, SNORA70D, SNORD71, TAT, TLE7, TRM-CAT2-1, ZNF19, ZNF23 0 0 1 0 0 0 1
AP4M1 0 0 1 0 0 0 1
ARB2A, KIAA0825, NR2F1, POU5F2 0 1 0 0 0 0 1
ARFGEF1 1 0 0 0 0 0 1
ARHGAP10, EDNRA, LINC02507, LOC110121259, LOC126807184, LOC126807185, LOC129993203, LOC129993204, LOC129993205, LOC129993206, LOC129993207, LOC129993208, LOC129993209, LOC129993210, LOC129993211, LOC129993212, LOC129993213, LOC129993214, MIR4799, NR3C2, PRMT9, TMEM184C, TMEM184C-DT 0 0 1 0 0 0 1
ARHGAP21 0 1 0 0 0 0 1
ARHGEF10L 0 1 0 0 0 0 1
ARHGEF6, BRS3, CD40LG, GPR101, HTATSF1, RBMX, VGLL1 0 1 0 0 0 0 1
ARID1B, SNX9, TMEM242, ZDHHC14 1 0 0 0 0 0 1
ARID4B, B3GALNT2, COA6, GGPS1, IRF2BP2, KCNK1, LINC00184, LINC01132, LINC01348, LINC01354, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC129388781, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC132088683, LOC132088684, MIR4427, MIR4671, MIR4753, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20 0 0 1 0 0 0 1
ARMCX2, ARMCX3, ARMCX5, ARMCX5-GPRASP2, ARMCX6, BEX1, BEX2, BEX3, BEX4, BEX5, BHLHB9, FAM199X, GPRASP1, GPRASP2, H2BW1, H2BW2, MORF4L2, NXF2, NXF2B, NXF3, NXF5, PLP1, RAB40A, RAB40AL, RAB9B, SLC25A53, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TMEM31, TMSB15A, TMSB15B, ZCCHC18, ZMAT1 1 0 0 0 0 0 1
ARMCX5, ARMCX5-GPRASP2, BEX1, BEX2, BEX3, BEX4, BEX5, BHLHB9, CLDN2, DNAAF6, ESX1, FAM199X, GPRASP1, GPRASP2, H2BW1, H2BW2, IL1RAPL2, MORC4, MORF4L2, NRK, NUP62CL, NXF2, NXF2B, NXF3, NXF5, PLP1, PWWP3B, RAB40A, RAB40AL, RAB9B, RADX, RBM41, RIPPLY1, RNF128, SERPINA7, SLC25A53, TBC1D8B, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TEX13A, TMEM31, TMSB15A, TMSB15B, ZCCHC18, ZMAT1 1 0 0 0 0 0 1
ARMCX5-GPRASP2, LINC00630 0 0 0 0 1 0 1
ARSA 1 0 0 0 0 0 1
ASH2L 0 1 0 0 0 0 1
ASXL3 0 1 0 0 0 0 1
ATAD3A, ATAD3B 1 0 0 0 0 0 1
ATAD3A, ATAD3B, ATAD3C 1 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 1
ATP2B3 1 0 0 0 0 0 1
ATP6V1A 0 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 1
BCCIP, CTBP2, DHX32, EDRF1, EDRF1-DT, LOC110120852, LOC111875834, LOC121815976, LOC121815977, LOC124416929, LOC124416930, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC128598885, LOC129390238, LOC130004934, LOC130004935, LOC130004936, LOC130004937, LOC130004938, LOC130004939, LOC130004940, LOC130004941, LOC132089756, LOC283038, MIR4296, MIR4484, MMP21, TEX36, UROS, ZRANB1 0 0 1 0 0 0 1
BCOR 0 1 0 0 0 0 1
BEX1, BEX2, BEX3, BEX4, ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, MORF4L2, NRK, NXF3, PLP1, RAB40A, RAB40AL, RAB9B, SERPINA7, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TEX13A, TMEM31, TMSB15B, ZCCHC18 1 0 0 0 0 0 1
BEX2, BEX3, BEX4, ESX1, FAM199X, H2BW1, H2BW2, IL1RAPL2, MORF4L2, NRK, PLP1, PWWP3B, RAB40A, RAB9B, SERPINA7, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TEX13A, TMEM31, TMSB15B, ZCCHC18 0 0 1 0 0 0 1
BEX2, BEX3, H2BW1, H2BW2, MORF4L2, PLP1, RAB40A, RAB9B, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TCEAL7, TCEAL9, TMEM31, TMSB15B, ZCCHC18 0 0 1 0 0 0 1
BEX3, H2BW1, H2BW2, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B 1 0 0 0 0 0 1
BHLHA9, TRARG1 1 0 0 0 0 0 1
BICD2 0 0 1 0 0 0 1
BIRC6, LTBP1, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, YIPF4 1 0 0 0 0 0 1
BORCS5 0 1 0 0 0 0 1
BRWD3 0 0 1 0 0 0 1
C12orf57 1 0 0 0 0 0 1
C19orf12 0 1 0 0 0 0 1
C3 0 0 1 0 0 0 1
CACNA1A 1 0 0 0 0 0 1
CACNA1E 0 0 1 0 0 0 1
CACNA2D2 0 1 0 0 0 0 1
CACUL1 0 1 0 0 0 0 1
CASK 1 0 0 0 0 0 1
CASR, CSTA, DTX3L, FAM162A, HSPBAP1, KPNA1, LINC02035, LOC111365173, LOC123038162, LOC126806788, LOC126806789, LOC126806790, LOC129389121, LOC129389122, LOC129937369, LOC129937370, LOC129937371, LOC129937372, LOC129937373, LOC129937374, LOC129937375, LOC129937376, LOC129937377, LOC129937378, LOC129937379, LOC129937380, LOC129937381, LOC129937382, LOC129937383, LOC129937384, LOC129937385, LOC129937386, LOC129937387, LOC129937388, LOC129937389, LOC129937390, LOC129937391, LOC129937392, MIX23, PARP14, PARP15, PARP9, PDIA5, SEMA5B, SLC49A4, WDR5B, WDR5B-DT 0 0 1 0 0 0 1
CCT8, LINC00161, LINC01695, LOC112694735, LOC125418055, LOC125418056, LOC126653335, LOC126653336, LOC129391240, LOC130066502, LOC130066503, LOC130066504, LOC130066505, LOC130066506, LOC130066507, LOC130066508, LOC130066509, LOC130066510, LOC130066511, LOC130066512, LOC130066513, LOC130066514, LOC130066515, LOC130066516, LOC130066517, LOC130066518, LTN1, MAP3K7CL, N6AMT1, RWDD2B, USP16 0 0 1 0 0 0 1
CDC5L 0 0 1 0 0 0 1
CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121099716, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC129389417, LOC129389418, LOC129389419, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, MIR4281, MXD3, NSD1, PRELID1, RAB24, RGS14, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 1
CDON 0 1 0 0 0 0 1
CELSR2 0 1 0 0 0 0 1
CEP85L 0 0 1 0 0 0 1
CEP97 0 1 0 0 0 0 1
CINP 0 1 0 0 0 0 1
CIT 0 0 1 0 0 0 1
CKS2, DIRAS2, GADD45G, LINC01501, LINC01508, LINC03062, LOC101927823, LOC101927847, LOC110121067, LOC121331332, LOC121331333, LOC124310582, LOC126860675, LOC126860676, LOC126860677, LOC126860678, LOC130001986, LOC130001987, LOC130001988, LOC130001989, LOC130001990, LOC130001991, LOC130001992, LOC130001993, LOC130001994, LOC130001995, LOC130001996, LOC130001997, LOC130001998, LOC130001999, LOC130002000, LOC130002001, LOC130002002, LOC130002003, LOC130002004, LOC130002005, LOC130002006, LOC130002007, LOC130002008, LOC130002009, LOC130002010, LOC130002011, LOC130002012, LOC130002013, LOC130002014, LOC130002015, LOC130002016, LOC130002017, LOC130002018, LOC130002019, LOC130002020, LOC130002021, LOC130002022, LOC130002023, LOC130002024, LOC130002025, LOC130002026, LOC130002027, LOC130002028, LOC130002029, LOC130002030, LOC130002031, LOC130002032, LOC130002033, LOC130002034, LOC130002035, LOC130002036, LOC130002037, LOC130002038, LOC130002039, LOC130002040, LOC130002041, LOC130002042, LOC132089694, LOC132089695, LOC132089696, LOC132089697, LOC132089698, LOC132089699, LOC132089700, LOC132089701, LOC132089702, LOC132089703, LOC132089704, LOC132089705, LOC132090788, LOC132090789, LOC132205970, MIR3153, MIR4290, MIR4290HG, SECISBP2, SEMA4D 0 0 1 0 0 0 1
CLN6 0 1 0 0 0 0 1
CLP1 0 1 0 0 0 0 1
CNTNAP2, LOC129999529, LOC132089517 0 1 0 0 0 0 1
COG6 1 0 0 0 0 0 1
COL12A1 1 0 0 0 0 0 1
COL4A1, COL4A2, IRS2, LINC00396, LINC00676, LINC03032, LINC03082, LOC107992391, LOC112163643, LOC121468007, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC132090172, LOC132090173, MIR8073 0 0 1 0 0 0 1
COL6A2 0 0 1 0 0 0 1
CORO1A 1 0 0 0 0 0 1
CPAP 0 0 0 1 0 0 1
CPLANE1 0 1 0 0 0 0 1
CPLX1 0 1 0 0 0 0 1
CRLF1 1 0 0 0 0 0 1
DARS1 0 1 0 0 0 0 1
DCAF6 0 1 0 0 0 0 1
DCX 0 1 0 0 0 0 1
DES 0 0 1 0 0 0 1
DHCR7 0 1 0 0 0 0 1
DHX58 0 0 1 0 0 0 1
DLG4 0 1 0 0 0 0 1
DNAH5 0 1 0 0 0 0 1
DNAH7 1 0 0 0 0 0 1
DNAI1 0 1 0 0 0 0 1
DNAJB5 0 1 0 0 0 0 1
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D 1 0 0 0 0 0 1
DPY30, LOC129933452, LOC129933453, LOC129933454, LOC129933455, SPAST 1 0 0 0 0 0 1
DRG1 0 1 0 0 0 0 1
DSCAML1 0 1 0 0 0 0 1
DYNC1H1 0 1 0 0 0 0 1
EBF3 1 0 0 0 0 0 1
EIF4A2 0 1 0 0 0 0 1
ELF4 1 0 0 0 0 0 1
EMD 1 0 0 0 0 0 1
EP300 0 1 0 0 0 0 1
EPB41L1 0 1 0 0 0 0 1
ERGIC1 0 1 0 0 0 0 1
ERGIC3 0 0 1 0 0 0 1
ESCO1, GREB1L 1 0 0 0 0 0 1
FAM222A 0 1 0 0 0 0 1
FARS2, LOC126859565 1 0 0 0 0 0 1
FAT1 0 0 1 0 0 0 1
FBN1 0 1 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
FBXL4 1 0 0 0 0 0 1
FGF10, FGF10-INT1, LINC02224, LOC110120690, MRPS30, MRPS30-DT 0 0 1 0 0 0 1
FGFRL1 0 0 1 0 0 0 1
FHL1 0 0 1 0 0 0 1
FKBP10 0 1 0 0 0 0 1
FLII 0 0 1 0 0 0 1
FOXP4 0 1 0 0 0 0 1
FREM1 0 0 1 0 0 0 1
GABRB2 0 1 0 0 0 0 1
GALT 1 0 0 0 0 0 1
GJA5 0 0 1 0 0 0 1
GJB1 0 1 0 0 0 0 1
GLI3 1 0 0 0 0 0 1
GPC4 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
GPR161 0 1 0 0 0 0 1
GRID2 1 0 0 0 0 0 1
GRIN1 0 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 0 1
GRIN2B 0 1 0 0 0 0 1
GSPT2 1 0 0 0 0 0 1
GTF3C1 0 1 0 0 0 0 1
GUCY2C 1 0 0 0 0 0 1
HADH 0 1 0 0 0 0 1
HDAC8 1 0 0 0 0 0 1
HELZ 0 1 0 0 0 0 1
HERC2 1 0 0 0 0 0 1
HEXB 1 0 0 0 0 0 1
HIBCH 1 0 0 0 0 0 1
HIVEP1 1 0 0 0 0 0 1
HKDC1 0 0 1 0 0 0 1
HNF1B 1 0 0 0 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 0 1
HOXD13 0 0 1 0 0 0 1
HSD17B4 0 0 1 0 0 0 1
IDS, LOC106050102 0 1 0 0 0 0 1
IGF1, LINC02456 0 1 0 0 0 0 1
IGFBP4 0 1 0 0 0 0 1
IGHMBP2, LOC126861245 1 0 0 0 0 0 1
IL17B 0 0 1 0 0 0 1
INA 0 1 0 0 0 0 1
INPPL1 0 0 1 0 0 0 1
IQSEC2 0 1 0 0 0 0 1
ISL1 0 0 1 0 0 0 1
ITGA7 0 1 0 0 0 0 1
ITPR1, LOC126806590 0 1 0 0 0 0 1
JAKMIP1 1 0 0 0 0 0 1
KANK1 0 1 0 0 0 0 1
KAT14 0 1 0 0 0 0 1
KCND3 1 0 0 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
KCNQ3 0 1 0 0 0 0 1
KCTD19 0 1 0 0 0 0 1
KDM2B 0 1 0 0 0 0 1
KDM5C 1 0 0 0 0 0 1
KIF1A 1 0 0 0 0 0 1
KIF23 0 1 0 0 0 0 1
KIF24 0 0 1 0 0 0 1
KIF5B 0 1 0 0 0 0 1
KLHL15 0 1 0 0 0 0 1
KMT2A 1 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 1
L1CAM 0 0 1 0 0 0 1
LAMC1 0 0 1 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 0 1
LEMD2, LOC129996186 1 0 0 0 0 0 1
LINC00501, LINC00578, LINC01209, LOC112935911, LOC112935912, LOC121725162, LOC121725163, LOC123256946, LOC123256947, LOC123256948, LOC126806877, LOC126806878, LOC126806879, LOC126806880, LOC129389175, LOC129389176, LOC129937938, LOC129937939, LOC129937940, LOC129937941, LOC129937942, LOC129937943, LOC129937944, LOC129937945, LOC129937946, LOC129937947, LOC129937948, LOC129937949, LOC129937950, TBL1XR1 0 1 0 0 0 0 1
LINC02315, LOC129390622 0 0 1 0 0 0 1
LOC101927727, LOC121848003, LOC125177401, LOC126862459, NXN 0 1 0 0 0 0 1
LOC105370589, NRXN3 1 0 0 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 0 1
LOC107832855, LOC129391286, LOC129391287, LOC130067755, LOC130067756, LOC130067757, LOC130067758, LOC130067759, LOC130067760, MIR3201 0 0 1 0 0 0 1
LOC108281134, SOX3 0 1 0 0 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 1
LOC126806490, UNC80 0 1 0 0 0 0 1
LOC126859647, MUC21 0 0 0 0 1 0 1
LOC126860075, POR 0 0 1 0 0 0 1
LOC126860282, MYOM2 0 0 1 0 0 0 1
LOC126860792, PMPCA 1 0 0 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 1
LOC129388840, LOC129933456, NLRC4, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 1
LOC129388840, LOC129933456, SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 1
LOC129994769, PROB1, SPATA24 0 0 1 0 0 0 1
LOC130003010, PMPCA 1 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 1
MAP2K2 1 0 0 0 0 0 1
MCPH1 0 1 0 0 0 0 1
MED27 0 0 1 0 0 0 1
MEF2C 0 0 1 0 0 0 1
MET 0 0 1 0 0 0 1
MHRT, MYH7 0 1 0 0 0 0 1
MICALL2 1 0 0 0 0 0 1
MID1IP1 0 0 1 0 0 0 1
MIR33B, RAI1, SREBF1, TOM1L2 1 0 0 0 0 0 1
MLC1 1 0 0 0 0 0 1
MLLT1 0 1 0 0 0 0 1
MLX, PSMC3IP 1 0 0 0 0 0 1
MMACHC 0 1 0 0 0 0 1
MND1 0 1 0 0 0 0 1
MPP4 1 0 0 0 0 0 1
MPZ, SDHC 0 1 0 0 0 0 1
MRPS22 0 0 1 0 0 0 1
MTRFR 0 1 0 0 0 0 1
MXRA8 0 1 0 0 0 0 1
MYBPC1 0 0 1 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 1
MYH3 0 1 0 0 0 0 1
MYH7B 0 0 1 0 0 0 1
MYO5A 1 0 0 0 0 0 1
MYOM2 0 0 1 0 0 0 1
NAA10 1 0 0 0 0 0 1
NDRG1 1 0 0 0 0 0 1
NEB 1 0 0 0 0 0 1
NEB, RIF1 0 1 0 0 0 0 1
NEBL 0 0 1 0 0 0 1
NEXMIF 1 0 0 0 0 0 1
NOBOX 0 1 0 0 0 0 1
NPAS2 0 1 0 0 0 0 1
NPR2, SPAG8 0 1 0 0 0 0 1
NR2C1 0 1 0 0 0 0 1
NRXN3 1 0 0 0 0 0 1
NSD1 1 0 0 0 0 0 1
OGDHL 0 1 0 0 0 0 1
OPA1 0 1 0 0 0 0 1
PADI6 0 0 1 0 0 0 1
PAX3 0 0 1 0 0 0 1
PHF6 1 0 0 0 0 0 1
PIEZO2 1 0 0 0 0 0 1
PIGN 0 1 0 0 0 0 1
PIK3CD 1 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 1
PLCB1 0 1 0 0 0 0 1
PLEKHG2 0 1 0 0 0 0 1
PLP1, TMEM31 1 0 0 0 0 0 1
PNPLA7 0 0 1 0 0 0 1
POLR3A 0 0 1 0 0 0 1
POMT2 0 1 0 0 0 0 1
PORCN 1 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 1
PPP1R35 1 0 0 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PRDM2 0 1 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKD1 0 0 1 0 0 0 1
PSD3 0 0 1 0 0 0 1
PTCHD1 0 1 0 0 0 0 1
PTPN11 0 1 0 0 0 0 1
PWWP2A, TTC1 0 1 0 0 0 0 1
RAC3 0 1 0 0 0 0 1
RAI2 0 0 1 0 0 0 1
RARS2 0 1 0 0 0 0 1
RBM20 0 0 1 0 0 0 1
RERE 0 1 0 0 0 0 1
RET 0 0 1 0 0 0 1
RIPK4 0 0 1 0 0 0 1
RIPPLY2, RIPPLY2-CYB5R4 0 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 1
ROBO1 0 1 0 0 0 0 1
ROCK2 0 0 1 0 0 0 1
ROR2, SPTLC1 0 1 0 0 0 0 1
ROS1 0 1 0 0 0 0 1
RSRC2 0 1 0 0 0 0 1
SARS2 1 0 0 0 0 0 1
SBDS 1 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 1
SCNN1B 1 0 0 0 0 0 1
SETX 1 0 0 0 0 0 1
SH3PXD2B 0 1 0 0 0 0 1
SIX2 0 0 1 0 0 0 1
SIX5 0 0 1 0 0 0 1
SKP1 0 0 1 0 0 0 1
SLC18A2 0 1 0 0 0 0 1
SLC1A1 0 1 0 0 0 0 1
SLC1A4 1 0 0 0 0 0 1
SLC25A16 0 1 0 0 0 0 1
SLC26A2 0 0 1 0 0 0 1
SLC26A4 0 1 0 0 0 0 1
SLC30A6, SLC30A6-DT, SPAST 1 0 0 0 0 0 1
SLC30A6-DT, SPAST 1 0 0 0 0 0 1
SLC30A7 1 0 0 0 0 0 1
SLC35A2 0 1 0 0 0 0 1
SLITRK5 0 1 0 0 0 0 1
SMAD2 0 0 1 0 0 0 1
SMARCA1 0 1 0 0 0 0 1
SMC3 1 0 0 0 0 0 1
SNAPIN 0 1 0 0 0 0 1
SNTA1 0 0 1 0 0 0 1
SNX14 0 1 0 0 0 0 1
SOX5 0 1 0 0 0 0 1
SPG11 0 1 0 0 0 0 1
SPTAN1 0 1 0 0 0 0 1
SPTBN4 0 0 1 0 0 0 1
SPTLC3 0 1 0 0 0 0 1
SRD5A3 1 0 0 0 0 0 1
SUPT16H 0 0 1 0 0 0 1
SVIL 0 1 0 0 0 0 1
SYN3 1 0 0 0 0 0 1
SYT2 0 0 1 0 0 0 1
SYTL2 0 0 1 0 0 0 1
TAF9B 0 0 1 0 0 0 1
TANC1 0 0 1 0 0 0 1
TBX5 0 0 1 0 0 0 1
TCAP 0 0 1 0 0 0 1
TCEAL1, TCEAL3, TCEAL4 0 1 0 0 0 0 1
TCF4 0 1 0 0 0 0 1
TFG 1 0 0 0 0 0 1
TG 0 0 1 0 0 0 1
TGFB3 1 0 0 0 0 0 1
TGFBR2 0 0 1 0 0 0 1
TLR7 1 0 0 0 0 0 1
TM4SF20 1 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 1
TMEM214 0 0 1 0 0 0 1
TMEM47 0 1 0 0 0 0 1
TNNT2 0 1 0 0 0 0 1
TNNT3 0 0 1 0 0 0 1
TNRC6C 0 0 1 0 0 0 1
TNXB 0 0 1 0 0 0 1
TOR1A 0 0 1 0 0 0 1
TRAPPC11 1 0 0 0 0 0 1
TRAPPC4 0 1 0 0 0 0 1
TRIM2 0 1 0 0 0 0 1
TRPM4 0 0 1 0 0 0 1
TRPV4 0 0 1 0 0 0 1
TSC1 0 0 1 0 0 0 1
TTI1 0 1 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 1
TUBB 0 0 1 0 0 0 1
TUBB3 0 1 0 0 0 0 1
TUT1 0 1 0 0 0 0 1
UBQLN1 0 1 0 0 0 0 1
UHMK1 0 1 0 0 0 0 1
ULK2 0 1 0 0 0 0 1
UPK3A 0 0 1 0 0 0 1
USP11 0 1 0 0 0 0 1
VPS8 0 0 1 0 0 0 1
WNT10B 1 0 0 0 0 0 1
WWP1 0 0 1 0 0 0 1
YARS1 0 1 0 0 0 0 1
ZBTB20 1 0 0 0 0 0 1
ZFP30 0 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 317
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Hereditary cancer-predisposing syndrome 0 6 0 134 1 0 141
Breast-ovarian cancer, familial, susceptibility to, 1 0 6 0 101 5 0 112
Abnormal brain morphology 0 90 0 0 0 0 90
Wolff-Parkinson-White pattern 1 15 69 0 0 0 85
Flexion contracture 1 5 28 3 0 0 37
Autosomal recessive Robinow syndrome 8 17 0 0 0 0 25
Neurodevelopmental disorder 0 16 4 0 0 0 20
Autosomal dominant Robinow syndrome 2 10 9 0 0 0 0 19
Cerebral visual impairment and intellectual disability 3 15 0 0 0 0 18
Hereditary spastic paraplegia 4 16 0 0 0 0 0 16
Autosomal dominant Robinow syndrome 1 7 6 0 0 0 0 13
Premature ovarian failure 0 1 10 1 1 0 13
not specified 1 2 6 0 6 0 13
Cornelia de Lange syndrome 1 12 0 0 0 0 0 12
Smith-Magenis Syndrome-like 12 0 0 0 0 0 12
Congenital anomaly of kidney and urinary tract 0 1 9 0 0 0 10
See cases 1 6 3 0 0 0 10
Visceral myopathy 1 10 0 0 0 0 0 10
Parkinson disease 0 1 8 0 0 0 9
Peripheral nerve hyperexcitability syndrome 9 0 0 0 0 0 9
Primary ciliary dyskinesia 23 9 0 0 0 0 0 9
STAT3-related early-onset multisystem autoimmune disease 9 0 0 0 0 0 9
DOORS syndrome 8 0 0 0 0 0 8
Mayer Rokitansky Kuster Hauser syndrome type 1 2 0 6 0 0 0 8
Mayer-Rokitansky-Küster-Hauser syndrome type 2 2 0 6 0 0 0 8
Charcot-Marie-Tooth disease type 2A2 4 3 0 0 0 0 7
Congenital diaphragmatic hernia 2 1 4 0 0 0 7
Distal arthrogryposis type 5D 3 2 2 0 0 0 7
Intellectual disability; Neurodevelopmental delay 0 7 0 0 0 0 7
Spondylocostal dysostosis 5 7 0 0 0 0 0 7
Bosch-Boonstra-Schaaf optic atrophy syndrome 3 5 0 0 0 0 6
Congenital anomalies of kidney and urinary tract 1 0 0 6 0 0 0 6
Global developmental delay; Intellectual disability 0 6 0 0 0 0 6
Heterotaxy, visceral, 1, X-linked 6 0 0 0 0 0 6
Microcephaly 1 5 0 0 0 0 6
Pineoblastoma 6 0 0 0 0 0 6
Polymicrogyria 0 0 6 0 0 0 6
Seizure; Intellectual disability; Neurodevelopmental delay 0 5 1 0 0 0 6
Tooth agenesis 1 5 0 0 0 0 6
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Moderate intellectual disability 5 0 0 0 0 0 5
Complex cortical dysplasia with other brain malformations 7 1 4 0 0 0 0 5
Early Onset Neurological Disease Trait 4 0 1 0 0 0 5
Hypercholanemia, familial 5 0 0 0 0 0 5
Immunodeficiency 23 5 0 0 0 0 0 5
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 5 0 0 0 0 0 5
Orofacial cleft 0 0 5 0 0 0 5
Aarskog syndrome 2 2 0 0 0 0 4
Abnormal corpus callosum morphology 0 0 4 0 0 0 4
Abnormality of neuronal migration 1 0 3 0 0 0 4
Acromesomelic dysplasia 1, Maroteaux type 1 3 0 0 0 0 4
Autoimmune interstitial lung disease-arthritis syndrome 4 0 0 0 0 0 4
Autosomal recessive distal spinal muscular atrophy 1 3 1 0 0 0 0 4
Autosomal recessive multiple pterygium syndrome 2 2 0 0 0 0 4
Bethlem myopathy 1A 2 0 2 0 0 0 4
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 4 0 0 0 0 4
Developmental and epileptic encephalopathy, 25 4 0 0 0 0 0 4
Dextrocardia 0 0 4 0 0 0 4
Distal shortening of limbs 0 4 0 0 0 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 4 0 0 0 0 4
Intellectual disability 0 0 4 0 0 0 4
Keratoconus 1 0 0 4 0 0 0 4
PERCHING syndrome 3 1 0 0 0 0 4
Severe early-childhood-onset retinal dystrophy 0 4 0 0 0 0 4
not provided 1 2 1 0 0 0 4
Autosomal dominant Robinow syndrome 3 1 2 0 0 0 0 3
Benign concentric annular macular dystrophy 3 0 0 0 0 0 3
Charcot-Marie-Tooth disease type 1B 1 2 0 0 0 0 3
Delayed speech and language development; Sleep apnea; Hypotonia 3 0 0 0 0 0 3
Epileptic encephalopathy 2 1 0 0 0 0 3
Fibromatosis, gingival, 1 0 3 0 0 0 0 3
GAPO syndrome 0 3 0 0 0 0 3
Heterotaxy, visceral, 5, autosomal 0 2 1 0 0 0 3
Increased histidine 0 0 0 0 0 3 3
Intellectual disability, X-linked 102 3 0 0 0 0 0 3
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 2 0 0 0 3
Orofacial cleft; Tooth agenesis 1 0 2 0 0 0 3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 1 0 2 0 0 0 3
Pontocerebellar hypoplasia type 1A 3 0 0 0 0 0 3
Premature ovarian failure 10 1 0 2 0 0 0 3
Seizure; Spasticity; Microcephaly; Severe global developmental delay 3 0 0 0 0 0 3
Vesicoureteral reflux 2 0 0 3 0 0 0 3
46,XX ovarian dysgenesis-short stature syndrome 1 0 1 0 0 0 2
ALG12-congenital disorder of glycosylation 2 0 0 0 0 0 2
Arthrogryposis, distal, type 1A 1 1 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 2 0 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2O 0 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 2 0 0 0 2
Autosomal recessive spinocerebellar ataxia 2 2 0 0 0 0 0 2
Branchiootorenal syndrome 1 1 0 1 0 0 0 2
Charcot-Marie-Tooth disease dominant intermediate B 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 4C 1 1 0 0 0 0 2
Chromosome 17p13.1 deletion syndrome 1 1 0 0 0 0 2
Cohen syndrome 0 0 2 0 0 0 2
Combined deficiency of sialidase AND beta galactosidase 2 0 0 0 0 0 2
Cone-rod dystrophy 18 2 0 0 0 0 0 2
Congenital contractures of the limbs and face, hypotonia, and developmental delay 2 0 0 0 0 0 2
Dandy-Walker syndrome; Global developmental delay; Hypoplasia of the corpus callosum; Cerebellar atrophy; Attention deficit hyperactivity disorder; Hypotonia 0 2 0 0 0 0 2
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 1 0 1 0 0 0 2
Global developmental delay; Hypoplasia of the corpus callosum; Abnormal cerebral white matter morphology; Periventricular leukomalacia; Delayed myelination; Hypotonia 0 2 0 0 0 0 2
Global developmental delay; Microcephaly 0 2 0 0 0 0 2
Global developmental delay; Nystagmus; Intellectual disability; Elbow flexion contracture; Knee flexion contracture; Cerebral hypomyelination; Hypotonia 2 0 0 0 0 0 2
Global developmental delay; Seizure; Intellectual disability; CNS hypomyelination; Brain atrophy; Hypotonia 0 2 0 0 0 0 2
Glycogen storage disease, type IV 1 0 1 0 0 0 2
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 2 0 0 0 0 0 2
Hereditary spastic paraplegia 2 2 0 0 0 0 0 2
Heterotaxy, visceral, 4, autosomal 0 0 2 0 0 0 2
Heterotaxy, visceral, 7, autosomal 1 1 0 0 0 0 2
Hyperlipoproteinemia, type 1D 2 0 0 0 0 0 2
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 2 0 0 0 2
Hypomyelinating leukodystrophy 11 2 0 0 0 0 0 2
Immunodeficiency 104 2 0 0 0 0 0 2
Joubert syndrome 1 2 0 0 0 0 0 2
Joubert syndrome 21 0 0 2 0 0 0 2
Leigh syndrome 2 0 0 0 0 0 2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2 0 0 0 0 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 2 0 0 0 0 0 2
Microcephaly 5, primary, autosomal recessive 0 2 0 0 0 0 2
Myofibromatosis, infantile, 1 1 1 0 0 0 0 2
Myopathy, centronuclear, 5 0 0 2 0 0 0 2
Nemaline myopathy 2 1 1 0 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 5 1 1 0 0 0 0 2
Nonsyndromic hypergonadotropic hypogonadism 0 2 0 0 0 0 2
Norman-Roberts syndrome 0 0 2 0 0 0 2
Peripheral neuropathy 0 1 1 0 0 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 2 0 0 0 2
Primary ciliary dyskinesia 5 0 0 2 0 0 0 2
Renal cysts and diabetes syndrome 1 0 1 0 0 0 2
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 2 0 0 0 0 0 2
Robinow syndrome, autosomal recessive 2 1 1 0 0 0 0 2
Scoliosis, isolated, susceptibility to, 1 0 0 2 0 0 0 2
Seizure; Hearing impairment; Compulsive behaviors; Attention deficit hyperactivity disorder 2 0 0 0 0 0 2
Short stature; Relative macrocephaly 2 0 0 0 0 0 2
Simplified gyral pattern 0 0 2 0 0 0 2
Steel syndrome 1 1 0 0 0 0 2
Stuve-Wiedemann syndrome 2 0 0 0 0 0 2
Townes-Brocks syndrome 1 0 0 2 0 0 0 2
Vesicoureteral reflux 8 0 0 2 0 0 0 2
X-linked acrogigantism due to Xq26 microduplication 2 1 0 0 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 1 0 0 0 0 0 1
5q35 microduplication syndrome 1 0 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 0 0 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 0 1
Angioedema 0 0 1 0 0 0 1
Anomalous pulmonary venous return 0 0 1 0 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 1 0 0 0 1
Arthrogryposis, distal, type 2B2 0 0 1 0 0 0 1
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 0 1
Autism; Seizure; Delayed speech and language development 1 0 0 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 18 1 0 0 0 0 0 1
Bartsocas-Papas syndrome 1 0 0 1 0 0 0 1
Benign concentric annular macular dystrophy; Cobalamin C disease 0 1 0 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 0 0 1
Branchiootorenal syndrome 2 0 0 1 0 0 0 1
Bruck syndrome 1 0 1 0 0 0 0 1
CHARGE syndrome 1 0 0 0 0 0 1
COG6-congenital disorder of glycosylation 1 0 0 0 0 0 1
Cardiomyopathy 1 0 0 0 0 0 1
Cataract 46 juvenile-onset 1 0 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 1
Cerebellar atrophy, visual impairment, and psychomotor retardation; 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 4 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2R 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4D 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 1 0 0 0 0 1
Chromosome 17P13.3, telomeric, duplication syndrome 1 0 0 0 0 0 1
Cold-induced sweating syndrome 1 1 0 0 0 0 0 1
Coloboma of optic nerve; Seizure; Choreoathetosis; Polymicrogyria; Intellectual disability; Abnormality of neuronal migration; Cerebellar dysplasia; Chorioretinal lacunae; Neurodevelopmental delay 0 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 14 1 0 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 0 1 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 0 0 1
Congenital contractural arachnodactyly 0 0 1 0 0 0 1
Congenital disorder of deglycosylation 1 0 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome; Wiedemann-Steiner syndrome 1 0 0 0 0 0 1
Congenital nystagmus 0 1 0 0 0 0 1
Cornelia de Lange syndrome 3; Wiedemann-Steiner syndrome 1 0 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Global developmental delay; Seizure; Polymicrogyria; Microcephaly; Abnormal cerebral cortex morphology 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Seizure; Intellectual disability; Periventricular heterotopia; Chorioretinal lacunae; Neurodevelopmental delay 0 1 0 0 0 0 1
Cowden syndrome 1 0 0 1 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 0 0 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 1
Developmental delay with autism spectrum disorder and gait instability 1 0 0 0 0 0 1
Dextrocardia; Conotruncal defect 0 0 1 0 0 0 1
Diastrophic dysplasia 0 0 1 0 0 0 1
Duodenal atresia; Asplenia; Reduced number of intrahepatic bile ducts; Abnormal biliary tract morphology 1 0 0 0 0 0 1
Dystonic disorder; Global developmental delay; Seizure; Nystagmus; Cerebellar cortical atrophy 1 0 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 0 0 1
Enlarged kidney; Multiple renal cysts; Reduced renal corticomedullary differentiation 0 1 0 0 0 0 1
Epilepsy, progressive myoclonic, 1B 0 1 0 0 0 0 1
Focal dermal hypoplasia 1 0 0 0 0 0 1
Frank-Ter Haar syndrome 0 1 0 0 0 0 1
Freeman-Sheldon syndrome 0 1 0 0 0 0 1
Generalized hypotonia 1 0 0 0 0 0 1
Global developmental delay; Feeding difficulties; Laryngeal hypoplasia; Ventricular septal defect 0 1 0 0 0 0 1
Global developmental delay; Hearing impairment; Sleep disturbance; Axial hypotonia; Delayed speech and language development; Microcephaly; Strabismus 1 0 0 0 0 0 1
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder 1 0 0 0 0 0 1
Global developmental delay; Microcephaly; Carious teeth; Intellectual disability; Abnormal cerebral cortex morphology; Muscular atrophy; Oral-pharyngeal dysphagia; Hypotonia 1 0 0 0 0 0 1
Global developmental delay; Microcephaly; Infantile spasms; Hypotonia 0 1 0 0 0 0 1
Global developmental delay; Patent foramen ovale; Hypoplasia of the corpus callosum; Anteriorly placed anus; Microcephaly; Cerebellar malformation; Macule; Ventricular septal defect 0 1 0 0 0 0 1
Global developmental delay; Seizure 0 1 0 0 0 0 1
Global developmental delay; Seizure; High palate; Wide nasal bridge; Strabismus; Intellectual disability; Generalized hypotonia 1 0 0 0 0 0 1
Global developmental delay; Seizure; Hypoplasia of the corpus callosum; Brain atrophy; Attention deficit hyperactivity disorder 0 1 0 0 0 0 1
Global developmental delay; Seizure; Hypoplasia of the corpus callosum; Brain atrophy; Hypotonia 0 1 0 0 0 0 1
Global developmental delay; Seizure; Visual impairment; Generalized hypotonia; Cerebellar vermis atrophy 1 0 0 0 0 0 1
Global developmental delay; Short stature; Failure to thrive; Hirsutism; EEG abnormality; Microcephaly; Intellectual disability; Generalized hypotonia 1 0 0 0 0 0 1
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint hypermobility; Attention deficit hyperactivity disorder; Hypotonia 1 0 0 0 0 0 1
Gollop-Wolfgang complex 1 0 0 0 0 0 1
Gordon syndrome 1 0 0 0 0 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 0 1 0 0 0 0 1
Harel-Yoon syndrome 1 0 0 0 0 0 1
Heart, malformation of 0 0 1 0 0 0 1
Hereditary motor and sensory neuropathy, Okinawa type 1 0 0 0 0 0 1
Hereditary spastic paraplegia 30 1 0 0 0 0 0 1
Hereditary spastic paraplegia 50 0 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 0 0 1
Hypertelorism; Global developmental delay; Cerebral atrophy; Short nose; Abnormal cortical gyration; Infantile spasms; Hypotonia 0 1 0 0 0 0 1
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 1 0 0 0 0 0 1
Hypomyelinating leukodystrophy 3 1 0 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 0 1
Infantile cerebellar-retinal degeneration 1 0 0 0 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 0 0 1
Isolated focal cortical dysplasia type II 0 0 1 0 0 0 1
KBG syndrome 1 0 0 0 0 0 1
Kartagener syndrome 0 1 0 0 0 0 1
Klippel-Feil syndrome 2, autosomal recessive 0 1 0 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 0 1
Lethal congenital contracture syndrome 4 0 0 1 0 0 0 1
Lethal congenital contracture syndrome 8 0 1 0 0 0 0 1
Lethal congenital contracture syndrome 9 0 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 0 1 0 0 0 1
Liddle syndrome 1 1 0 0 0 0 0 1
Lissencephaly 0 0 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 0 1
Microcephaly 17, primary, autosomal recessive 0 0 1 0 0 0 1
Microcephaly 6, primary, autosomal recessive 0 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 13 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 1 0 0 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 0 1 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 0 0 1
Neurogenic bladder; Renal tubular dysgenesis; Generalized hypotonia; Broad-based gait; Developmental regression 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 8 0 0 1 0 0 0 1
Non-obstructive azoospermia 0 1 0 0 0 0 1
Noonan syndrome 1 0 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 0 1 0 0 0 0 1
Obesity; Global developmental delay; Autistic behavior; Seizure; Myopia; Strabismus 0 1 0 0 0 0 1
Ogden syndrome 1 0 0 0 0 0 1
Opsismodysplasia 0 0 1 0 0 0 1
Orofaciodigital syndrome type 6 0 1 0 0 0 0 1
Ovarian dysgenesis 3 1 0 0 0 0 0 1
PHARC syndrome 1 0 0 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 0 0 1
Pituitary stalk interruption syndrome 0 1 0 0 0 0 1
Polycystic kidney disease; Intellectual disability; Emphysema; Reduced renal corticomedullary differentiation; Neurodevelopmental delay; Postaxial polydactyly 0 1 0 0 0 0 1
Polysyndactyly 4 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 10 0 1 0 0 0 0 1
Prader-Willi syndrome 1 0 0 0 0 0 1
Premature ovarian failure 5 0 1 0 0 0 0 1
Primary ciliary dyskinesia 3 0 1 0 0 0 0 1
Primrose syndrome 1 0 0 0 0 0 1
Progressive microcephaly 1 0 0 0 0 0 1
Renal coloboma syndrome 1 0 0 0 0 0 1
Renal hypodysplasia/aplasia 1 0 0 1 0 0 0 1
Renal hypoplasia; Multiple renal cysts; Reduced renal corticomedullary differentiation 0 1 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 0 0 0 0 1
SLC35A2-congenital disorder of glycosylation 0 1 0 0 0 0 1
SRD5A3-congenital disorder of glycosylation 1 0 0 0 0 0 1
Sandhoff disease 1 0 0 0 0 0 1
Schizoaffective depressive disorder 0 1 0 0 0 0 1
Seizure 1 0 0 0 0 0 1
Seizure; Hypoplasia of the corpus callosum; Dyspnea; Abnormal basal ganglia morphology; Abnormal muscle tone 1 0 0 0 0 0 1
Seizure; Microcephaly; Intellectual disability 0 1 0 0 0 0 1
Seizure; Short stature; Unsteady gait; Microcephaly; Strabismus; Oculomotor apraxia 1 0 0 0 0 0 1
Seizures, benign familial neonatal, 2 0 1 0 0 0 0 1
Sensory neuropathy; Peripheral neuropathy 0 1 0 0 0 0 1
Severe combined immunodeficiency due to CORO1A deficiency 1 0 0 0 0 0 1
Short stature; Unilateral renal agenesis; Microcephaly; Intellectual disability; Neurodevelopmental delay 0 1 0 0 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 0 1
Skeletal myopathy; Peripheral neuropathy 0 1 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 0 1
Sotos syndrome 1 0 0 0 0 0 1
Spastic Paraplegia 2, mild, late onset 1 0 0 0 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 0 0 0 0 1
Specific language impairment 5 1 0 0 0 0 0 1
Spinocerebellar ataxia type 19/22 1 0 0 0 0 0 1
Spinocerebellar ataxia type 29 0 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 0 0 0 1
Split hand-foot malformation 5 1 0 0 0 0 0 1
Split hand-foot malformation 6 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Lubs type 1 0 0 0 0 0 1
Syndromic intellectual disability 1 0 0 0 0 0 1
Synpolydactyly type 1 0 0 1 0 0 0 1
Systemic lupus erythematosus 1 0 0 0 0 0 1
Torticollis; Atrial septal defect; Inguinal hernia; Syncope; Coarse facial features; Broad thumb; Delayed speech and language development; Recurrent otitis media; Broad nasal tip; Umbilical hernia; Gastroesophageal reflux; Aplasia/Hypoplasia of the nails; Cleft anterior mitral valve leaflet 0 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 2 1 0 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 0 0 0 1
X-linked complicated corpus callosum dysgenesis 0 0 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 0 1
X-linked scapuloperoneal muscular dystrophy 0 0 1 0 0 0 1

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