gene Transcript-HGMD inheritance Diabetes-HI Obesity Intellectual deficiency

Lipid disorders/lipodystrophy/IR/PCOS Liver disorders Heart disorders

Kidney disorders Stroke Pancreatite Congenital Hypogonadotropic
Hypogonadism Lymphoedema
A2ML1 NM_144670.5 AD 1 1
AARS2 NM_020745.3 AR 1
ABCA1 NM_005502.3 AR 1 1
ABCA4 NM_000350.2 AD/AR 1
ABCB11 NM_003742.2 AR 1 1
ABCB4 NM_000443.3 AR 1 1
ABCC2 NM_000392.4 AR 1 1
ABCC6 NM_001171.5 AD/AR 1 1 1
ABCC8 NM_000352.4 AD/AR 1 1
ABCC9 NM_005691.3 AD/AR 1 1
ABCD4 NM_005050.3 AD 1
ABCG1 NM_207174.1 AD 1
ABCG2 NM_004827.2 AD 1
ABCG5 NM_022436.2 AR 1
ABCG8 NM_022437.2 AR 1
ABHD5 NM_016006.5 AR 1 1
ABL1 NM_007313.2 AD 1
ACACB NM_001093.3 AD 1
ACAD9 NM_014049.4 AR 1 1 1 1
ACADL NM_001608.3 AR 1
ACADM NM_000016.5 AR 1 1
ACADS NM_000017.3 AR 1
ACADVL NM_000018.3 AR 1 1
ACAN NM_013227.3 AD/AR 1
ACAT1 NM_000019.3 AR 1
ACE NM_000789.3 AR 1
ACLY NM_001096.2 HYPOTHESIS 1
ACP5 NM_001111035.2 AR 1 1
ACSL4 NM_004458.2 XL 1
ACTA1 NM_001100.3 AD/AR 1
ACTA2 NM_001613.3 AD 1 1 1
ACTB NM_001101.4 AD 1 1 1
ACTC1 NM_005159.4 AD 1
ACTG1 NM_001614.3 AD 1 1 1
ACTG2 NM_001615.3 AD 1
ACTL6B NM_016188.4 de novo 1

ACTN2 NM_001103.3 AD 1
ACTN4 NM_004924.5 AD 1
ACVR1 NM_001105.4 AD/AR 1
ACVR2B NM_001106.3 AD 1
ACVRL1 NM_000020.2 AD 1 1 1
ACY1 NM_000666.2 AR 1
ADA NM_000022.3 AR 1
ADA2 NM_001282225.1 AR 1 1
ADAMTS10 NM_030957.3 AR 1
ADAMTS13 NM_139025.4 AR 1
ADAMTS17 NM_139057.3 AR 1
ADAMTS19 NM_133638.4 AR 1
ADAMTS2 NM_014244.4 AR 1
ADAMTS9 NM_182920.1 AR 1
ADAMTSL4 NM_019032.5 AR 1
ADARB1 NM_015833.3 AR 1
ADCY10 NM_018417.5 AD 1
ADCY3 NM_004036.4 AR 1
ADNP NM_015339.4 AD 1
ADPRHL2 NM_017825.2 AR 1
ADSL NM_000026.3 AR 1
AFF2 NM_002025.3 XL 1 1
AFF4 NM_014423.3 AD 1 1 1 1
AGA NM_000027.3 AR 1
AGK NM_018238.3 AR 1
AGL NM_000642.2 AR 1
AGO1 NM_012199.4 AD 1
AGPAT2 NM_006412.3 AR 1 1
AGT NM_000029.3 AR 1 1
AGTR1 NM_031850.3 AR 1 1
AGXT NM_000030.2 AR 1 1
AHDC1 NM_001029882.3 AD 1
AHI1 NM_017651.4 AR 1 1
AKAP9 NM_005751.4 AD 1
AKR1D1 NM_005989.3 AR 1
AKT2 NM_001626.5 AD 1
AKT3 NM_005465.4 AD 1
ALAD NM_000031.5 AR 1
ALAS2 NM_000032.4 XLD 1
ALDH18A1 NM_002860.3 AR 1
ALDH1A2 NM_003888.3 AD 1
ALDH3A2 NM_000382.2 AR 1
ALDH5A1 NM_001080.3 AR 1
ALDH7A1 NM_001182.4 AR 1
ALDOB NM_000035.3 AR 1 1 1
ALG1 NM_019109.4 AR 1
ALG12 NM_024105.3 AR 1
ALG13 NM_001099922.2 XL 1
ALG3 NM_005787.5 AR 1
ALG6 NM_013339.3 AR 1
ALG8 NM_024079.4 AR 1
ALG9 NM_024740.2 AR 1 1
ALKBH8 NM_001301010.1 AR 1

ALMS1 NM_015120.4 AR 1 1 1 1
ALPK3 NM_020778.4 AD 1
ALPL NM_000478.5 AD/AR 1
AMACR NM_014324.5 AR 1 1
AMER1 NM_152424.3 XLD 1
AMH NM_000479.4 AR 1
AMHR2 NM_020547.3 AR 1
AMMECR1 NM_015365.2 XL 1
AMN NM_030943.3 AR 1
AMT NM_000481.3 AR 1
ANGPTL3 NM_014495.3 AD 1
ANGPTL4 NM_139314.2 AD 1
ANGPTL8 NM_018687.6 AD 1
ANK2 NM_001148.5 AD 1 1
ANK3 NM_020987.4 AR 1
ANKH NM_054027.5 AD 1
ANKRD1 NM_014391.2 AD 1 1
ANKRD11 NM_013275.5 AD 1 1
ANKS1B NM_152788.4 AD 1
ANKS6 NM_173551.4 AR 1 1
ANLN NM_018685.4 AD 1
ANOS1 NM_000216.3 XLR 1 1 1 1
AP1S2 NM_003916.4 XL 1
AP2M1 NM_004068.3 de novo 1
AP2S1 NM_004069.4 AD 1
AP4B1 NM_006594.4 AR 1
AP4E1 NM_007347.4 AR 1
AP4M1 NM_004722.3 AR 1 1
AP4S1 NM_007077.4 AR 1
APC2 NM_005883.2 AR 1 1
APOA1 NM_000039.2 AD 1 1 1
APOA4 NM_000482.3 AD 1
APOA5 NM_052968.4 AD 1
APOB NM_000384.2 AD 1 1
APOC2 NM_000483.4 AD/AR 1
APOC3 NM_000040.2 AD 1
APOE NM_000041.3 AD/AR 1
APP NM_000484.3 AD 1
APPL1 NM_012096.2 AD 1
APRT NM_000485.2 AR 1
APTX NM_175073.2 AR 1
AQP1 NM_198098.3 AD 1
AQP2 NM_000486.5 AD 1
ARFGEF2 NM_006420.2 AR 1
ARHGAP31 NM_020754.3 AD 1
ARHGDIA NM_001185077.2 AR 1

ARHGEF6 NM_004840.2 HYPOTHESIS 1

ARHGEF9 NM_015185.2 XL 1
ARID1A NM_006015.5 AD 1 1 1
ARID1B NM_020732.3 AD 1 1 1
ARIH1 NM_005744.3 AD 1
ARL13B NM_182896.2 AR 1
ARL6 NM_177976.3 AR 1 1 1 1
ARMC4 NM_018076.4 AR 1
ARMC5 NM_001105247.1 AD 1
ARNT2 NM_014862.3 AR 1
ARSA NM_000487.5 AR 1
ARX NM_139058.2 XLD 1 1 1
ASAH1 NM_177924.4 AR 1
ASCL1 NM_004316.3 AD 1
ASH1L NM_018489.2 AD 1
ASL NM_000048.3 AR 1
ASPA NM_000049.2 AR 1
ASPM NM_018136.4 AR 1
ASS1 NM_000050.4 AR 1 1 1
ASXL1 NM_015338.5 AD 1 1
ASXL3 NM_030632.2 AD 1
ATIC NM_004044.6 AR 1
ATP1A1 NM_000701.7 De novo 1

ATP6AP2 NM_005765.2 HYPOTHESIS 1

ATP6V0A4 NM_020632.2 AR 1
ATP6V1B1 NM_001692.3 AR 1
ATP6V1C2 NM_001039362.1 HYPOTHESIS 1

ATP7A NM_000052.6 XLR 1 1 1 1

ATP7B NM_000053.3 AR 1 1 1
ATP8B1 NM_005603.5 AR 1 1
ATR NM_001184.3 AR 1
ATRX NM_000489.4 XLD 1 1 1 1
ATXN10 NM_013236.3 AD 1
AUH NM_001698.2 AR 1 1
AUTS2 NM_015570.3 AD 1
AVP NM_000490.4 AD 1
AVPR2 NM_000054.4 XLR 1
AXL NM_021913.4 AD 1
B2M NM_004048.2 AR 1
B3GAT3 NM_012200.3 AR 1
B3GLCT NM_194318.3 AR 1 1 1
B4GALT7 NM_007255.2 AR 1
B4GAT1 NM_006876.2 AR 1
B9D1 NM_015681.4 AR 1 1
B9D2 NM_030578.3 AR 1 1
BAAT NM_001701.3 AR 1
BAG3 NM_004281.3 AD 1
BANF1 NM_001143985.1 AR 1 1
BBIP1 NM_001195306.1 AR 1 1 1
BBS1 NM_024649.4 AR 1 1 1 1
BBS10 NM_024685.3 AR 1 1 1 1
BBS12 NM_152618.2 AR 1 1 1 1
BBS2 NM_031885.3 AR 1 1 1 1
BBS4 NM_033028.4 AR 1 1 1 1
BBS5 NM_152384.2 AR 1 1 1 1
BBS7 NM_176824.2 AR 1 1 1 1
BBS9 NM_198428.2 AR 1 1 1 1
BCKDHA NM_000709.3 AR 1
BCKDHB NM_183050.3 AR 1
BCKDK NM_005881.3 AR 1
BCL11A NM_022893.3 AD 1
BCOR NM_017745.5 XLD 1 1 1
BCR NM_004327.3 HYPOTHESIS 1
BCS1L NM_004328.4 AR 1
BDNF NM_170735.5 AD 1
BLK NM_001715.2 AD 1
BLM NM_000057.3 AR 1
BMP10 NM_014482.2 AD 1
BMP4 NM_001202.5 AD 1
BMP7 NM_001719.2 AD 1
BMPER NM_133468.4 AR 1
BMPR1B NM_001203.2 AD/AR 1
BMPR2 NM_001204.6 AD 1
BRAF NM_004333.5 AD 1 1 1
BRD3 NM_007371.3 de novo 1
BRIP1 NM_032043.2 AD 1
BRPF1 NM_001003694.1 AD 1
BRWD1 NM_018963.4 AD 1
BRWD3 NM_153252.4 XLR 1 1
BSCL2 NM_032667.6 AD/AR 1 1
BSND NM_057176.2 AR 1
BTD NM_001281723.2 AR 1
BTF3 NM_001037637.1 AD 1
BUB1B NM_001211.5 AR 1
C12orf57 NM_138425.3 AR 1 1
C1QA NM_015991.3 AR 1
C1QB NM_000491.4 AR 1
C1QC NM_172369.4 AR 1
C2 NM_000063.5 AR 1
C2CD3 NM_015531.5 AR 1
C3 NM_000064.3 AD/AR 1
C4A NM_007293.2 AR 1
CA2 NM_000067.2 AR 1
CA8 NM_004056.5 AD 1
CACNA1A NM_001127221.1 AD 1 1

CACNA1B NM_000718.3 AD 1
CACNA1C NM_000719.6 AD 1 1 1
CACNA1D NM_000720.3 AR/de novo 1 1 1

CACNA1E NM_000721.3 de novo 1 1

CACNA1F NM_005183.3 XL 1 1
CACNA1G NM_018896.4 AD 1 1
CACNA1S NM_000069.2 AD 1
CACNA2D1 NM_000722.3 AD/AR 1
CACNB2 NM_201590.2 AD 1
CACNG2 NM_006078.4 AD 1
CAD NM_004341.4 AR 1 1
CALCR NM_001742.3 HYPOTHESIS 1
CALM1 NM_006888.4 AD 1
CALM2 NM_001743.5 AD 1
CALM3 NM_005184.3 AD 1
CALR3 NM_145046.4 AD 1
CAMK2A NM_015981.3 AR 1
CAMTA1 NM_015215.3 AD 1
CAPN3 NM_000070.2 AR 1
CASK NM_003688.3 XL 1
CASP10 NM_032977.3 AD 1
CASQ2 NM_001232.3 AD/AR 1
CASR NM_000388.3 AD/AR 1 1 1
CAV1 NM_001753.4 AD/AR 1 1
CAV3 NM_033337.2 AD 1
CAVIN1 NM_012232.5 AR 1 1
CAVIN4 NM_001018116.2 AD 1

CBL NM_005188.3 AD 1 1
CBS NM_000071.2 AR 1 1 1
CBWD1 NM_018491.3 AR 1
CC2D1A NM_017721.4 AR 1
CC2D2A NM_001080522.2 AR 1 1 1

CCBE1 NM_133459.3 AR/HYPOTHESIS 1

1
CCDC103 NM_213607.2 AR 1
CCDC114 NM_144577.3 AR 1
CCDC151 NM_145045.4 AR 1
CCDC22 NM_014008.4 XL 1 1
CCDC39 NM_181426.1 AR 1
CCDC40 NM_017950.3 AR 1
CCDC47 NM_020198.2 AR 1
CCDC65 NM_033124.4 AR 1
CCM2 NM_031443.3 AD 1
CCN1 NM_001554.4 AD 1
CCND2 NM_001759.3 AD 1
CCNO NM_021147.4 AR 1
CCNQ NM_152274.4 XLD 1
CD151 NM_004357.4 AR 1
CD19 NM_001770.5 AR 1
CD36 NM_001001547.2 AD/AR 1
CD59 NM_203330.2 AD/AR 1
CD81 NM_004356.3 AR 1
CD96 NM_198196.2 AR 1
CDC5L NM_001253.3 AD 1
CDC73 NM_024529.4 AD 1
CDH10 NM_006727.4 de novo 1
CDH15 NM_004933.2 AD 1
CDH2 NM_001792.4 de novo 1
CDH9 NM_016279.3 de novo 1
CDK13 NM_003718.4 AD 1 1
CDK19 NM_001300960.1 de novo 1

CDK5RAP2 NM_018249.5 AR 1
CDK6 NM_001259.7 HYPOTHESIS 1
CDK8 NM_001260.2 AD 1 1
CDK9 NM_001261.3 AR 1
CDKL5 NM_003159.2 XL 1 1
CDKN1B NM_004064.4 AD 1
CDKN1C NM_000076.2 AD 1
CEL NM_001807.6 AD 1
CELA2A NM_033440.2 AD 1 1 1 1
CELSR1 NM_014246.1 AD 1
1
CELSR2 NM_001408.2 AD/AR 1
CELSR3 NM_001407.2 AR 1
CENPF NM_016343.3 AR 1
CENPJ NM_018451.4 AR 1
CEP104 NM_014704.3 AR 1
CEP120 NM_153223.3 AR 1
CEP152 NM_014985.3 AR 1
CEP164 NM_014956.4 AR 1
CEP19 NM_032898.4 AR 1 1
CEP290 NM_025114.3 AR 1 1 1 1
CEP41 NM_018718.2 AR 1
CEP83 NM_016122.2 AR 1
CERT1 NM_001130105.1 AD 1
CETP NM_000078.2 AD 1 1
CFAP298 NM_021254.3 AR 1
CFAP53 NM_145020.4 AR 1
CFB NM_001710.5 AD 1
CFC1 NM_032545.3 AD/AR 1
CFH NM_000186.3 AD/AR 1 1
CFHR1 NM_002113.2 AR 1 1
CFHR3 NM_021023.5 HYPOTHESIS 1 1
CFHR5 NM_030787.3 AD 1
CFI NM_000204.4 AD 1
CFTR NM_000492.3 AR 1 1 1
CHAMP1 NM_001164144.2 AD 1

CHD1L NM_004284.5 AD 1
CHD2 NM_001271.3 AD 1 1
CHD4 NM_001273.3 AD 1 1
CHD5 NM_015557.2 AD 1
CHD7 NM_017780.3 AD 1 1 1 1 1
CHD8 NM_001170629.1 AD 1
CHKB NM_005198.4 AR 1
CHRM2 NM_000739.2 AD/AR 1
CHRM3 NM_000740.3 AR 1
CHRNA2 NM_000742.3 AD 1
CHRNA3 NM_000743.4 AR 1
CHRNA4 NM_000744.6 AD 1 1
CHRNA7 NM_000746.5 AD 1
CHRNB2 NM_000748.2 AD 1
CHST14 NM_130468.3 AR 1 1
CIDEC NM_022094.3 AR 1
CISD2 NM_001008388.4 AR 1 1
CITED2 NM_006079.4 AD 1
CLCN2 NM_004366.5 AD/AR 1
CLCN4 NM_001830.3 XL 1
CLCN5 NM_000084.4 XLR 1
CLCN6 NM_001286.3 de novo 1
CLCNKA NM_004070.3 AR 1
CLCNKB NM_000085.4 AR 1 1
CLDN1 NM_021101.4 AR 1
CLDN10 NM_006984.4 AR 1
CLDN14 NM_144492.2 HYPOTHESIS 1

CLDN16 NM_006580.3 AR 1
CLDN19 NM_148960.2 AR 1
CLDN2 NM_020384.3 XLR 1
CLIC2 NM_001289.5 HYPOTHESIS 1 1
CLN3 NM_001042432.1 AR 1
CLN5 NM_006493.4 AR 1
CLN6 NM_017882.2 AR 1
CLN8 NM_018941.3 AR 1
CLTC NM_001288653.1 AD 1
CNKSR2 NM_014927.4 HYPOTHESIS 1

CNNM2 NM_017649.4 AD 1
CNOT1 NM_001265612.1 de novo 1 1

CNOT3 NM_014516.3 AD 1 1
CNTN4 NM_175607.2 de novo 1
CNTNAP2 NM_014141.5 AD/AR 1
COA8 NM_001370595.2 AR 1
COL18A1 NM_130445.3 AR 1 1
COL1A1 NM_000088.3 AD 1 1
COL1A2 NM_000089.3 AD 1
COL2A1 NM_001844.4 AD 1
COL3A1 NM_000090.3 AD 1 1
COL4A1 NM_001845.5 AD 1 1 1
COL4A2 NM_001846.3 AD 1
COL4A3 NM_000091.4 AD 1 1
COL4A4 NM_000092.4 AD 1
COL4A5 NM_000495.4 XLD 1 1
COL5A1 NM_000093.4 AD 1 1 1
COL5A2 NM_000393.4 AD 1 1
COPA NM_004371.3 AD 1
COQ2 NM_015697.8 AR 1 1
COQ6 NM_182476.2 AR 1
COQ7 NM_016138.4 AR 1
COQ8A NM_020247.4 AR 1 1 1
COQ8B NM_024876.3 AR 1
COQ9 NM_020312.3 AR 1
COX10 NM_001303.3 AR 1
COX14 NM_032901.3 AR 1
COX15 NM_004376.6 AR 1
COX20 NM_198076.5 AR 1
COX6B1 NM_001863.4 AR 1 1
COX7B NM_001866.2 AD 1
COX8A NM_004074.2 AR 1
CPA6 NM_020361.4 AD/AR 1
CPE NM_001873.3 AR 1 1
CPLANE1 NM_023073.3 AR 1
CPOX NM_000097.5 AD 1
CPS1 NM_001875.4 AR 1 1 1
CPT1A NM_001876.3 AR 1 1
CPT2 NM_000098.2 AR 1 1 1
CR1 NM_000651.4 AD 1
CRB2 NM_173689.6 AR 1
CRBN NM_016302.3 AR 1
CREB3L3 NM_032607.2 AD 1
CREBBP NM_004380.2 AD 1 1 1 1
CRELD1 NM_015513.4 AD 1
CRTAP NM_006371.4 AR 1
CRYAB NM_001885.2 AD/AR 1
CSDE1 NM_001130523.2 AD 1
CSNK2A1 NM_001895.3 AD 1
CSPP1 NM_024790.6 AR 1
CSRP3 NM_003476.4 AD 1
CSTB NM_000100.3 AR 1
CTC1 NM_025099.5 AR 1 1
CTCF NM_006565.3 AD 1
CTF1 NM_001330.3 AD/AR 1
CTNNA3 NM_013266.3 AD 1
CTNNB1 NM_001904.3 AD 1
CTNS NM_004937.2 AR 1
CTRC NM_007272.2 AD 1 1
CTSA NM_000308.3 AR 1
CTSF NM_003793.3 AR 1
CTU2 NM_001012759.2 AR 1
CUBN NM_001081.3 AR 1
CUL3 NM_003590.4 AD 1 1
CUL4B NM_003588.3 XL 1 1
CUX2 NM_015267.3 AD 1
CYFIP1 NM_014608.5 AD 1
CYP11A1 NM_000781.2 AR 1
CYP11B1 NM_000497.3 AR 1 1
CYP17A1 NM_000102.3 AR 1
CYP21A2 NM_000500.7 AR 1
CYP24A1 NM_000782.4 AR 1
CYP27A1 NM_000784.3 AR 1 1 1 1
CYP27B1 NM_000785.3 AR 1
CYP2D6 NM_000106.5 AD 1
CYP2R1 NM_024514.4 AR 1
CYP2U1 NM_183075.2 AR 1
CYP7A1 NM_000780.3 AR 1
CYP7B1 NM_004820.4 AR 1
D2HGDH NM_152783.4 AR 1
DAAM2 NM_015345.3 AR 1
DBH NM_000787.3 AR 1
DBT NM_001918.3 AR 1
DCDC2 NM_016356.4 AR 1 1
DCHS1 NM_003737.3 AD 1 1
DCX NM_178153.2 XL 1
DDHD2 NM_015214.2 AR 1
DDX3X NM_001193416.2 XLID 1
DDX59 NM_001031725.5 AR 1
DDX6 NM_004397.5 De novo 1
DEAF1 NM_021008.3 AD/AR 1 1
DEPDC5 NM_001242896.1 AD 1

DES NM_001927.3 AD/AR 1

DGKD NM_152879.2 HYPOTHESIS 1
DGKE NM_003647.2 AR 1 1
DGKH NM_152910.5 HYPOTHESIS 1
DGUOK NM_080916.2 AR 1 1
DHCR24 NM_014762.3 AR 1 1
DHCR7 NM_001360.2 AR 1 1 1 1
DIP2B NM_173602.2 AD 1
DIS3L2 NM_152383.4 AR 1
DISC1 NM_018662.2 AD 1
DKC1 NM_001363.4 XLR 1 1
DLG2 NM_001142699.1 AD 1
DLG3 NM_021120.3 XLR 1 1
DLL1 NM_005618.3 AD 1
DLL3 NM_016941.3 AR 1 1
DLL4 NM_019074.3 AD 1 1
DLX4 NM_138281.2 AD 1
DMD NM_004006.2 XLR 1 1
DMP1 NM_004407.3 AR 1
DMPK NM_001081563.2 AD 1
DMXL2 NM_001174116.1 AR
1
DNA2 NM_001080449.2 AR 1
DNAAF1 NM_178452.5 AR 1 1
DNAAF2 NM_018139.2 AR 1
DNAAF3 NM_001256714.1 AR 1

DNAAF4 NM_130810.3 AR 1
DNAAF5 NM_017802.3 AR 1
DNAH1 NM_015512.4 AR 1
DNAH11 NM_001277115.1 AR 1

DNAH5 NM_001369.2 AR 1
DNAH6 NM_001370.1 AD 1
DNAH8 NM_001206927.1 AR 1
DNAI1 NM_012144.3 AR 1
DNAI2 NM_023036.5 AR 1
DNAJB11 NM_016306.5 AD 1
DNAJC19 NM_145261.3 AR 1
DNAJC3 NM_006260.4 AR 1
DNAL1 NM_031427.3 AR 1
DNASE1L3 NM_004944.3 AR 1
DNM1 NM_004408.3 AD 1
DNM1L NM_012062.4 AD 1 1
DNM3 NM_015569.4 HYPOTHESIS 1
DNMT3A NM_175629.2 AD 1
DNMT3B NM_006892.3 AD/AR 1 1
DOCK6 NM_020812.3 AR 1 1
DOLK NM_014908.3 AR 1
DPAGT1 NM_001382.3 AR 1
DPH1 NM_001383.4 AR 1
DPM1 NM_003859.2 AR 1
DPP6 NM_001936.4 AD 1 1
DPYD NM_000110.3 AD 1
DRC1 NM_145038.4 AR 1
DSC2 NM_024422.4 AD/AR 1
DSCAM NM_001389.4 AD 1
DSG2 NM_001943.4 AD 1
DSP NM_004415.3 AD/AR 1
DSTYK NM_015375.2 AD 1
DTNA NM_001390.4 AD 1
DYNC1H1 NM_001376.4 AD 1
DYNC1I2 NM_001378.2 AR 1
DYNC2H1 NM_001080463.1 AR 1

DYRK1A NM_001396.4 AD 1 1
DYRK1B NM_004714.2 AD 1 1 1 1
DYSF NM_003494.3 AR 1
EBF3 NM_001005463.2 AD 1
EBP NM_006579.2 XLD 1
EDNRA NM_001957.3 AD 1
EEF1A2 NM_001958.3 AD 1
EFEMP2 NM_016938.4 AR 1 1 1
EFTUD2 NM_004247.3 AD 1 1
EGF NM_001963.5 AR 1
EHHADH NM_001966.3 AD 1
EHMT1 NM_024757.4 AD 1 1 1
EIF2AK3 NM_004836.6 AR 1 1
EIF2AK4 NM_001013703.3 AR 1

EIF2B1 NM_001414.3 De novo 1

EIF2B4 NM_015636.3 AR 1
EIF2S3 NM_001415.3 XLR 1 1
EIF4E NM_001130679.2 AD 1
ELAC2 NM_018127.6 AD/AR 1
ELN NM_001278939.1 AD 1
ELP1 NM_003640.4 AD 1
ELP2 NM_001242875.2 HYPOTHESIS 1

EMC1 NM_015047.2 AD/AR 1

EMD NM_000117.2 XLR/XLD 1
EMP2 NM_001424.5 AR 1
EN2 NM_001427.3 AD 1
ENG NM_000118.3 AD 1 1 1
ENO3 NM_053013.3 AR 1
ENPP1 NM_006208.2 AR 1 1 1
EOGT NM_001278689.1 AR 1
EP300 NM_001429.3 AD 1 1 1
EPB41L1 NM_012156.2 AD 1
EPG5 NM_020964.2 AR 1
EPHA2 NM_004431.4 digenique avec SLC26A4 1

EPHB4 NM_004444.4 AD 1 1
EPHX1 NM_000120.3 AD 1 1
EPM2A NM_005670.3 AR 1
ERBB3 NM_001982.3 AR 1 1
ERCC4 NM_005236.2 AR 1
ERCC6 NM_000124.3 AR 1
ERCC8 NM_000082.3 AR 1
ERLIN2 NM_007175.6 AR 1
ESCO2 NM_001017420.2 AR 1 1 1
ETFA NM_000126.3 AR 1 1
ETFB NM_001985.2 AR 1 1
ETFDH NM_004453.3 AR 1 1
ETV4 NM_001986.2 AR 1
EVC NM_153717.2 AD/AR 1 1
EVC2 NM_147127.4 AD/AR 1 1
EYA1 NM_000503.5 AD 1 1
EYA4 NM_004100.4 AD 1
F2 NM_000506.4 AD 1 1 1
F5 NM_000130.4 AD/AR 1
F7 NM_000131.4 AR 1
FAH NM_000137.2 AR 1 1
FAM20A NM_017565.3 AR 1
FAM20C NM_020223.3 AR 1
FAN1 NM_014967.4 AR 1
FANCA NM_000135.3 AR 1 1
FANCB NM_001018113.2 XLR 1
FANCC NM_000136.2 AR 1 1
FANCD2 NM_033084.4 AR 1 1
FANCE NM_021922.2 AR 1 1
FANCF NM_022725.3 AR 1
FANCG NM_004629.1 AR 1
FANCI NM_001113378.1 AR 1
FANCL NM_018062.3 AR 1
FANCM NM_020937.3 AR 1
FASTKD2 NM_014929.3 AR 1 1
FAT4 NM_024582.4 AR 1
FBLN5 NM_006329.3 AD/AR 1 1
FBN1 NM_000138.4 AD 1 1 1
FBN2 NM_001999.3 AD 1
FBN3 NM_032447.4 AD/AR 1 1 1 1
FBXL4 NM_012160.4 AR 1
FBXO11 NM_001190274.1 AD 1

FBXW11 NM_012300.2 De novo 1

FECH NM_000140.3 AR 1
FEZF1 NM_001024613.3 AR
1
FGA NM_021871.3 AD/AR 1 1 1
FGB NM_005141.4 AR 1
FGD1 NM_004463.2 XL 1 1
FGF10 NM_004465.1 AD 1 1
FGF12 NM_021032.4 AD 1
FGF17 NM_003867.3 AD 1
FGF20 NM_019851.2 AR 1
FGF23 NM_020638.2 AD/AR 1 1
FGF8 NM_033163.3 AD 1
FGFR1 NM_023110.2 AD 1 1 1 1
FGFR2 NM_000141.4 AD 1 1
FGFR3 NM_000142.4 AD 1 1
FHL1 NM_001449.4 XLD 1
FHL2 NM_201555.1 AD 1
FHOD3 NM_025135.4 AD 1
FKBP14 NM_017946.3 AR 1 1
FKRP NM_024301.4 AR 1
FKTN NM_001079802.1 AR 1
FLCN NM_144997.6 AD 1
FLNA NM_001456.3 XLD/XLR 1 1 1 1
FLNB NM_001457.3 AD 1 1
FLNC NM_001458.4 AD 1
FLT4 NM_182925.4 AD 1 1
1
FMR1 NM_002024.5 XL 1 1
FN1 NM_212482.2 AD 1
FOLR1 NM_016725.2 AR 1
FOXA2 NM_021784.4 De novo 1
FOXC1 NM_001453.2 AD 1 1 1
FOXC2 NM_005251.2 AD 1 1
1
FOXE3 NM_012186.2 AD/AR 1
FOXF1 NM_001451.2 AD 1 1
FOXG1 NM_005249.4 AD 1
FOXH1 NM_003923.2 AD 1
FOXP1 NM_032682.5 AD 1 1
FOXP2 NM_014491.3 AD 1
FOXP3 NM_014009.3 XL 1
FRAS1 NM_025074.6 AD/AR 1
FREM1 NM_144966.5 AD/AR 1
FREM2 NM_207361.5 AD/AR 1
FRMPD4 NM_014728.3 HYPOTHESIS 1

FTCD NM_006657.2 AR 1
FTSJ1 NM_012280.3 XL 1
FUCA1 NM_000147.4 AR 1
FUZ NM_025129.4 AR 1
FXN NM_000144.4 AR 1
FXYD2 NM_001680.4 AD 1
G6PC NM_000151.3 AR 1
G6PC3 NM_138387.3 AR 1
GAA NM_000152.4 AR 1 1 1
GABBR2 NM_005458.7 AD 1
GABRA1 NM_000806.5 AR 1
GABRB2 NM_021911.2 AD 1
GABRB3 NM_000814.5 AD 1
GABRD NM_000815.4 AD 1
GABRG2 NM_000816.3 AD 1
GALNT3 NM_004482.3 AR 1 1
GALT NM_000155.3 AR 1 1 1 1
GAMT NM_000156.5 AR 1 1
GANAB NM_198335.3 AD 1 1
GAP43 NM_001130064.1 AD 1
GAS8 NM_001481.2 AR 1
GATA2 NM_032638.4 AD 1
1
GATA3 NM_001002295.1 AD 1 1 1
GATA4 NM_002052.4 AD 1 1
GATA5 NM_080473.4 AD/AR 1
GATA6 NM_005257.5 AD 1 1 1
GATAD1 NM_021167.4 AR 1
GATAD2B NM_020699.3 AD 1
GATM NM_001482.2 AR 1
GBA NM_001005741.2 AR 1 1 1 1
GBE1 NM_000158.3 AR 1
GCDH NM_000159.3 AR 1 1 1
GCH1 NM_000161.2 AR 1
GCK NM_000162.4 AD 1
GCKR NM_001486.3 AD 1
GCM2 NM_004752.3 AD 1
GCSH NM_004483.4 AR 1
GDF1 NM_001492.5 AD/AR 1
GDF15 NM_004864.3 HYPOTHESIS 1
GDF2 NM_016204.3 AD/AR 1 1 1
GDF9 NM_005260.5 AD 1
GDI1 NM_001493.2 XL 1
GDNF NM_000514.3 AD 1
GFM1 NM_024996.5 AR 1
GFPT2 NM_005110.3 de novo 1
GFRA1 NM_005264.5 AR 1
GHR NM_000163.4 AR 1 1
GIPC1 NM_202470.2 HYPOTHESIS 1
GJA1 NM_000165.4 AD/AR 1
GJA5 NM_005266.6 AD 1
GJC2 NM_020435.3 AD
1
GK NM_000167.5 XL 1 1
GLA NM_000169.2 XLD 1 1 1
GLB1 NM_000404.3 AR 1 1
GLDC NM_000170.2 AR 1
GLI3 NM_000168.5 AD 1 1
GLIS2 NM_032575.2 AR 1
GLIS3 NM_152629.3 AR 1 1
GLMN NM_053274.2 AD 1
GLUD1 NM_005271.4 AD 1
GNA11 NM_002067.4 AD 1
GNAI1 NM_002069.5 AD 1
GNAI2 NM_002070.3 AD 1
GNAO1 NM_020988.2 AD 1
GNAS NM_000516.5 AD 1 1
GNB1 NM_002074.4 AD 1
GNE NM_001128227.2 AR 1
GNRH1 NM_000825.3 AD/AR 1
GNRHR NM_000406.2 AR 1
GOSR2 NM_004287.4 AR 1
GPC3 NM_004484.3 XLR 1 1 1
GPD1 NM_005276.3 AR 1 1
GPD1L NM_015141.3 AD 1
GPIHBP1 NM_178172.5 AR 1
GPRASP1 NM_001099411.1 AD 1

GREB1L NM_001142966.2 AD 1

GREM1 NM_013372.6 AR 1
GRHPR NM_012203.1 AR 1
GRIA3 NM_000828.4 XL 1
GRIA4 NM_000829.3 de novo 1
GRID2 NM_001510.3 AR 1
GRIK2 NM_021956.4 AR 1
GRIN1 NM_007327.3 AD 1
GRIN2A NM_000833.4 AD 1
GRIN2B NM_000834.4 AD 1
GRIP1 NM_021150.3 de novo/AD/AR 1 1

GSN NM_000177.4 AD 1 1
GTPBP3 NM_133644.3 AD 1
GUSB NM_000181.3 AR 1 1
H3-3A NM_002107.4 De novo 1
H3-3B NM_005324.4 De novo 1
HAAO NM_012205.2 AR 1
HADH NM_005327.4 AR 1 1
HADHA NM_000182.4 AR 1 1 1
HADHB NM_000183.2 AR 1 1 1
HAL NM_002108.3 HYPOTHESIS 1
HAND1 NM_004821.2 AD 1
HAND2 NM_021973.2 AD 1
HBB NM_000518.4 AD/AR 1 1
HCCS NM_005333.4 XL 1 1
HCFC1 NM_005334.2 XL 1
HCN1 NM_021072.3 AD 1
HCN2 NM_001194.3 AD 1 1
HCN4 NM_005477.2 AD 1
HDAC4 NM_006037.3 AD 1 1
HDAC8 NM_018486.2 XL 1 1 1 1
HEPACAM NM_152722.4 AR 1
HES7 NM_032580.3 AR 1
HESX1 NM_003865.2 AD/AR 1
HEXA NM_000520.5 AR 1
HEY2 NM_012259.2 AD 1
HFE NM_000410.3 AR 1 1
HGD NM_000187.3 AR 1
HGF NM_000601.5 AD
1
HGSNAT NM_152419.2 AR 1
HIVEP2 NM_006734.3 AD 1
HK1 NM_000188.2 AD 1
HMBS NM_000190.3 AD 1
HMGA2 NM_003483.4 AD 1
HMGCL NM_000191.2 AR 1
HMGCR NM_000859.2 AD 1
HNF1A NM_000545.6 AD 1 1
HNF1B NM_000458.3 AD 1 1 1
HNF4A NM_175914.4 AD 1 1
HNRNPK NM_002140.4 AD 1
HNRNPU NM_031844.2 AD 1
HOGA1 NM_138413.3 AR 1
HOXA1 NM_005522.4 AR 1 1
HOXA13 NM_000522.4 AD 1
HOXD13 NM_000523.3 AD 1
HPDL NM_032756.2 AR 1
HPRT1 NM_000194.2 XL 1 1
HPS1 NM_000195.4 AR 1
HPSE2 NM_021828.4 AR 1
HRAS NM_005343.3 AD 1 1 1
HS2ST1 NM_012262.4 AR 1 1
HS6ST1 NM_004807.2 AD
1
HSD11B2 NM_000196.3 AD/AR 1 1 1
HSD17B10 NM_004493.2 XLD 1 1
HSD17B3 NM_000197.1 AR 1
HSD17B4 NM_000414.3 AR 1
HSD3B2 NM_000198.3 AR 1
HSD3B7 NM_025193.3 AR 1
HSPA9 NM_004134.6 AR 1
HSPB8 NM_014365.2 AD 1
HSPG2 NM_005529.6 AR 1
HTRA1 NM_002775.4 AD/AR 1 1
HUWE1 NM_031407.6 XL 1
HYLS1 NM_145014.2 AR 1
ICK NM_016513.4 HYPOTHESIS 1
IDS NM_000202.7 XL 1
IDUA NM_000203.4 AR 1
IER3IP1 NM_016097.4 AR 1
IFT122 NM_052985.3 AR 1
IFT140 NM_014714.3 AR 1
IFT172 NM_015662.2 AR 1 1 1
IFT27 NM_006860.4 AR 1 1 1
IFT43 NM_052873.2 AR 1
IFT52 NM_001303458.2 AD 1
IFT57 NM_018010.3 HYPOTHESIS 1
IFT80 NM_020800.2 AR 1
IFT81 NM_014055.3 AR 1
IGBP1 NM_001551.2 HYPOTHESIS 1 1
IGF1 NM_000618.4 AR 1
IGF1R NM_000875.4 AD/AR 1
IKBKG NM_001099857.2 XL 1 1
IL17RD NM_017563.4 AD
1
IL1RAPL1 NM_014271.3 XL 1
ILK NM_004517.3 AD 1
INF2 NM_022489.3 AD 1
INPP5E NM_019892.5 AR 1 1 1
INPPL1 NM_001567.3 AR 1
INS NM_000207.2 AD/AR 1
INSR NM_000208.3 AD/AR 1 1
INVS NM_014425.4 AR 1 1 1
IQCB1 NM_001023570.3 AR 1
IQSEC1 NM_014869.6 AR 1
IQSEC2 NM_001111125.2 XL 1 1

IRF6 NM_006147.3 AD 1
IRX4 NM_016358.2 AD 1
ISL1 NM_002202.2 AD 1
ITGA3 NM_002204.3 AR 1
ITGA6 NM_000210.3 AR 1
ITGA8 NM_003638.2 AD/AR 1
ITGB4 NM_001005731.2 AD/AR 1
ITM2B NM_021999.4 AD 1
ITPR1 NM_002222.5 AD 1
IVD NM_002225.5 AR 1 1
JAG1 NM_000214.2 AD 1 1 1 1
JAM3 NM_032801.4 AD/AR 1 1 1
JPH2 NM_020433.4 AD 1
JUP NM_002230.3 AD/AR 1
KANK1 NM_015158.4 AR 1
KANK2 NM_001136191.2 AR 1
KANK4 NM_181712.4 AR 1
KANSL1 NM_001193466.1 AD 1 1 1

KANSL2 NM_017822.3 de novo 1

KAT5 NM_006388.3 AD 1
KAT6A NM_006766.4 AD 1 1
KAT6B NM_012330.3 AD/AR 1 1 1
KAT8 NM_182958.2 de novo 1
KATNAL2 NM_031303.3 AD 1
KCNA1 NM_000217.2 AD 1 1 1
KCNA5 NM_002234.3 AD 1
KCNAB2 NM_003636.3 AD 1
KCNB1 NM_004975.3 AD 1
KCNB2 NM_004770.2 AD 1
KCNC1 NM_001112741.1 AD 1
KCND2 NM_012281.2 AD/AR 1
KCND3 NM_004980.4 AD 1
KCNE1 NM_000219.5 AD/AR 1
KCNE2 NM_172201.1 AD 1
KCNE3 NM_005472.4 AD 1
KCNE4 NM_080671.3 AD 1
KCNE5 NM_012282.3 XLD 1
KCNH1 NM_172362.2 AD 1 1
KCNH2 NM_000238.3 AD 1
KCNJ1 NM_000220.4 AR 1 1
KCNJ10 NM_002241.4 AR 1 1
KCNJ11 NM_000525.3 AD/AR 1
KCNJ12 NM_021012.4 AD 1
KCNJ16 NM_018658.2 AD 1 1
KCNJ2 NM_000891.2 AD 1
KCNJ3 NM_002239.3 AD 1
KCNJ5 NM_000890.4 AD 1 1
KCNJ6 NM_002240.4 AD 1
KCNJ8 NM_004982.3 AD 1
KCNK3 NM_002246.2 AD/AR 1
KCNK9 NM_001282534.1 AD 1
KCNMA1 NM_002247.3 AD 1
KCNN3 NM_002249.5 De novo 1 1
KCNQ1 NM_000218.2 AD/AR 1
KCNQ2 NM_172107.3 AD 1
KCNQ3 NM_004519.3 AD 1
KCNT1 NM_020822.2 AD 1 1
KCTD1 NM_001258221.1 AD 1
KCTD13 NM_178863.4 HYPOTHESIS 1 1

KCTD7 NM_153033.4 AR 1
KDM1A NM_001009999.2 AD 1
KDM3B NM_016604.3 AD 1
KDM4B NM_015015.2 AD 1
KDM5A NM_001042603.2 HYPOTHESIS 1

KDM5B NM_006618.4 AD 1 1
KDM5C NM_004187.3 XL 1
KDM6A NM_021140.3 XLD 1 1 1 1 1
KIAA0556 NM_015202.3 HYPOTHESIS 1

KIAA0586 NM_001244189.1 AR 1 1

KIAA0753 NM_014804.2 AR 1
KIDINS220 NM_020738.3 AD 1 1
KIF11 NM_004523.3 AD 1 1
KIF14 NM_014875.2 AR 1
KIF1A NM_004321.7 AD/AR 1
KIF3B NM_004798.3 AD 1
KIF7 NM_198525.2 AR 1 1
KIRREL3 NM_032531.3 AD 1
KISS1 NM_002256.3 AD 1
KISS1R NM_032551.4 AD
 1
KL NM_004795.3 AR 1 1
KLF10 NM_005655.3 AD 1
KLF11 NM_003597.4 AD 1
KLF8 NM_007250.5 HYPOTHESIS 1
KLHL15 NM_030624.2 HYPOTHESIS 1

KLHL3 NM_017415.2 AD/AR 1

KMT2A NM_001197104.1 AD 1 1 1
KMT2C NM_170606.2 AD 1 1
KMT2D NM_003482.3 AD 1 1 1 1 1
KMT2E NM_182931.2 AD 1
KMT5B NM_017635.4 AD 1
KRAS NM_004985.4 AD 1 1 1
KRIT1 NM_194456.1 AD 1
KRT18 NM_000224.2 AD 1
KRT8 NM_002273.3 AD/AR 1
KSR2 NM_173598.4 AD 1
KYNU NM_003937.2 AR 1 1
L1CAM NM_000425.4 XL 1
LAMA2 NM_000426.3 AD/AR 1
LAMA4 NM_002290.4 AD 1
LAMB2 NM_002292.3 AR 1
LAMB3 NM_000228.2 AD/AR 1
LAMC2 NM_005562.2 AR 1
LAMC3 NM_006059.3 AR 1
LAMP2 NM_002294.2 XLD 1 1
LARGE1 NM_004737.5 AR 1
LARS1 NM_020117.10 AR 1 1
LAS1L NM_031206.4 HYPOTHESIS 1 1
LCAT NM_000229.1 AR 1 1
LDB3 NM_001080116.1 AD 1
LDHA NM_005566.3 AR 1
LDLR NM_000527.4 AD/AR 1 1
LDLRAP1 NM_015627.2 AR 1
LEP NM_000230.2 AR 1 1
LEPR NM_002303.5 AR 1 1
LFNG NM_001040167.1 AR 1
LGI1 NM_005097.3 AD 1
LIMK1 NM_002314.3 De novo 1
LIPA NM_000235.3 AD/AR 1 1
LIPC NM_000236.2 AD 1 1
LIPE NM_005357.3 AR 1
LIPG NM_006033.3 AD/AR 1
LIPI NM_198996.3 AD 1
LMBRD1 NM_018368.3 AR 1
LMF1 NM_022773.3 AD/AR 1
LMNA NM_170707.3 AD/AR 1 1 1 1
LMNB1 NM_005573.3 AD 1
LMX1B NM_002316.3 AD 1
LONP1 NM_004793.3 AR 1
LPA NM_005577.2 AD 1 1
LPIN1 NM_145693.3 AR 1 1
LPL NM_000237.2 AR 1 1 1
LRBA NM_006726.4 AR 1
LRIG2 NM_014813.2 AR 1
LRP2 NM_004525.2 AD/AR 1 1
LRP4 NM_002334.3 AD/AR 1
LRP5 NM_002335.3 AD/AR 1 1
LRP6 NM_002336.2 AD 1 1 1 1
LRRC10 NM_201550.3 AD 1
LRRC43 NM_001098519.1 AD 1

LRRC6 NM_012472.5 AR 1
LTBP4 NM_003573.2 AR 1 1
LYZ NM_000239.2 AD 1
LZTFL1 NM_020347.3 AR 1 1 1
LZTR1 NM_006767.3 AD 1 1
MAFA NM_201589.3 AD 1
MAFB NM_005461.4 AD 1
MAGED2 NM_177433.2 XLD 1
MAGEL2 NM_019066.4 AD 1 1
MAGI2 NM_012301.3 AD 1
MAN1B1 NM_016219.4 AR 1
MAN2B1 NM_000528.3 AR 1
MANBA NM_005908.3 AR 1
MAOA NM_000240.3 XL 1
MAP2K1 NM_002755.3 AD 1 1 1
MAP2K2 NM_030662.3 AD 1 1 1
MAPK1 NM_002745.4 De novo 1
MAPK8IP3 NM_001040439.1 De novo 1

MAPRE2 NM_014268.3 HYPOTHESIS 1

MAST1 NM_014975.2 De novo 1

MAT2A NM_005911.5 AD 1
MBD5 NM_018328.4 AD 1 1
MBOAT7 NM_024298.4 AR 1 1
MBTPS2 NM_015884.3 XLR 1 1
MC3R NM_019888.3 HYPOTHESIS 1
MC4R NM_005912.2 AD/AR 1
MCIDAS NM_001190787.1 AR 1

MCPH1 NM_024596.4 AR 1
MCTP2 NM_018349.3 AD 1 1
MECP2 NM_004992.3 XLD 1 1 1
MED12 NM_005120.2 XLR 1 1
MED13L NM_015335.4 AD/AR 1 1
MED17 NM_004268.4 AR 1
MED23 NM_015979.3 HYPOTHESIS 1
MEF2A NM_005587.3 AD 1
MEF2C NM_002397.4 AD 1 1
MEFV NM_000243.2 AD/AR 1
MEGF8 NM_001410.2 AR 1 1
MEIS2 NM_170674.4 AD 1 1
MESP1 NM_018670.3 AD 1
MESP2 NM_001039958.1 AR 1
MET NM_001127500.2 AD/AR 1 1
1 1
METTL5 NM_014168.3 AR 1
MFAP5 NM_003480.3 AD 1 1
MFN2 NM_014874.3 AD/AR 1 1
MFSD8 NM_152778.2 AR 1
MGP NM_000900.4 HYPOTHESIS/AR 1 1

MIA3 NM_001324062.1 AR 1 1
MIB1 NM_020774.3 AD 1 1
MID1 NM_000381.3 XLR 1 1
MIR17HG NR_027350.1 AD 1
MKKS NM_018848.3 AR 1 1 1 1
MKS1 NM_017777.3 AR 1 1 1 1 1
MLH1 NM_000249.3 AD/AR 1
MMACHC NM_015506.2 AR 1 1 1
MMP21 NM_147191.1 AR 1
MMUT NM_000255.3 AD/AR 1 1 1
MN1 NM_002430.2 De novo 1
MNX1 NM_005515.3 AR 1 1
MPI NM_002435.2 AR 1
MPV17 NM_002437.4 AR 1 1
MRAP2 NM_138409.3 AD 1 1
MRAS NM_012219.4 AD 1 1
MRPL44 NM_022915.3 AR 1
MRPS22 NM_020191.2 AR 1 1
MSH2 NM_000251.2 AD 1
MSH6 NM_000179.2 AD/AR 1
MSL3 NM_001282174.1 XLID 1
MTHFR NM_005957.4 AR 1 1 1
MTM1 NM_000252.2 XLR 1
MTO1 NM_012123.3 AR 1
MTR NM_000254.2 AR 1
MTTP NM_000253.3 AR 1 1
MUC1 NM_002456.5 AD 1
MVK NM_000431.3 AD/AR 1
MYBPC3 NM_000256.3 AD/AR 1
MYCN NM_005378.5 AD 1 1 1
MYH11 NM_002474.2 AD 1 1
MYH6 NM_002471.3 AD 1
MYH7 NM_000257.3 AD 1
MYH7B NM_020884.4 AD 1
MYH9 NM_002473.5 AD 1 1
MYL2 NM_000432.3 AD 1
MYL3 NM_000258.2 AD 1
MYLK NM_053025.3 AD 1
MYLK2 NM_033118.3 AD 1
MYO18B NM_032608.6 AR 1
MYO1E NM_004998.3 AR 1
MYO5B NM_001080467.2 AR 1
MYOM1 NM_003803.3 AD 1
MYOT NM_006790.2 AD/AR 1
MYOZ2 NM_016599.4 AD 1
MYPN NM_032578.3 AD/AR 1
MYRF NM_001127392.2 AD 1
MYT1L NM_015025.3 AD 1 1
NAA10 NM_003491.3 XL 1 1 1
NAA15 NM_057175.4 AD 1 1
NAGLU NM_000263.3 AR 1
NARS1 NM_004539.3 AD/AR 1
NARS2 NM_024678.5 AR 1
NBAS NM_015909.3 AR 1
NBN NM_002485.4 AR 1
NCOA1 NM_003743.4 AD 1
NCOA6 NM_014071.4 AD 1
NDE1 NM_001143979.1 HYPOTHESIS 1

NDNF NM_024574.3 AD 1
NDST1 NM_001543.4 AR 1
NDUFA1 NM_004541.3 XL 1
NDUFAF1 NM_016013.3 AR 1
NDUFAF8 NM_001086521.1 AR 1

NDUFB3 NM_002491.2 AR 1
NDUFV2 NM_021074.4 AR 1
NEB NM_001271208.1 AR 1
NEBL NM_006393.2 AD 1
NECAP1 NM_015509.3 AD 1
NECTIN1 NM_002855.4 AR 1
NEDD4L NM_015277.5 AD 1
NEK1 NM_012224.2 AR 1
NEK8 NM_178170.2 AR 1 1
NEUROD1 NM_002500.4 AD/AR 1
NEUROG3 NM_020999.3 AR 1
NEXMIF NM_001008537.2 XLD 1 1

NEXN NM_144573.3 AD 1
NF1 NM_000267.3 AD 1 1 1 1
NF2 NM_000268.3 AD 1
NFATC1 NM_006162.4 AD 1
NFIB NM_001190737.1 AD 1
NFIX NM_001271043.2 AD 1
NGFR NM_002507.3 De novo 1
NHLRC1 NM_198586.2 AR 1
NHP2 NM_017838.3 AR 1
NHS NM_198270.3 XL 1
NIPBL NM_133433.3 AD 1 1 1 1
NKAP NM_024528.3 XLD 1
NKX2-2 NM_002509.3 AR 1
NKX2-5 NM_004387.3 AD 1
NKX2-6 NM_001136271.2 AD/AR 1

NLGN3 NM_018977.3 XL 1
NLGN4X NM_020742.3 XL 1
NLRP3 NM_004895.4 AD 1
NME8 NM_016616.4 AR 1
NODAL NM_018055.4 AD 1
NONO NM_001145408.1 XL 1
NOS1 NM_000620.4 AD 1
NOTCH1 NM_017617.4 AD 1
NOTCH2 NM_024408.3 AD 1 1 1
NOTCH3 NM_000435.2 AD 1 1 1
NPC1 NM_000271.4 AR 1 1 1
NPC1L1 NM_013389.2 AD 1
NPC2 NM_006432.3 AR 1 1
NPHP1 NM_000272.3 AR 1 1 1 1
NPHP3 NM_153240.4 AR/AD 1 1 1
NPHP4 NM_015102.4 AR 1 1 1
NPHS1 NM_004646.3 AR 1 1
NPHS2 NM_014625.3 AR 1
NPPA NM_006172.3 AD/AR 1
NR0B1 NM_000475.4 XLR 1 1
NR1H4 NM_005123.3 AD 1 1
NR2F2 NM_021005.3 AD 1
NR3C2 NM_000901.4 AD 1
NRAS NM_002524.4 AD 1 1
NRIP1 NM_003489.3 AD 1
NRP1 NM_003873.5 AD 1
NRP2 NM_201266.1 AD 1
NRXN1 NM_001135659.2 AD/AR 1
NRXN2 NM_138732.2 AD 1
NSD1 NM_022455.4 AD 1 1 1
NSDHL NM_015922.2 XL 1 1 1
NSMF NM_015537.4 AD 1
NSUN2 NM_017755.5 AR 1
NTNG1 NM_014917.3 AD 1
NTNG2 NM_032536.3 AR 1
NTRK2 NM_006180.4 AD 1
NTRK3 NM_001012338.2 AD 1
NUP107 NM_020401.3 AR 1
NUP155 NM_153485.2 AR 1
NUP188 NM_015354.2 AR 1
NUP205 NM_015135.2 AR 1
NUP93 NM_014669.4 AR 1
OBSCN NM_052843.3 AD 1
OCLN NM_002538.3 AR 1
OCRL NM_000276.3 XLR 1 1
OFD1 NM_003611.2 XL 1 1 1
OPHN1 NM_002547.2 XL 1
OPLAH NM_017570.4 AR 1
ORAI1 NM_032790.3 AD/AR 1
OSR1 NM_145260.2 HYPOTHESIS 1
OTC NM_000531.5 XLR 1 1 1
OTUD4 NM_001102653.1 AR
1
OXR1 NM_001198534.1 AR 1
OXTR NM_000916.3 HYPOTHESIS 1
PACS1 NM_018026.3 AD 1
PACS2 NM_001100913.2 AD 1
PAFAH1B1 NM_000430.3 AD 1
PAH NM_000277.2 AR 1
PAK3 NM_002578.4 XL 1
PALB2 NM_024675.3 AD 1
PAX2 NM_003987.4 AD 1
PAX4 NM_001366110.1 AD 1
PAX5 NM_016734.2 AD 1
PAX6 NM_000280.4 AR 1
PBX1 NM_002585.3 AD 1 1
PC NM_000920.3 AR 1
PCBD1 NM_000281.3 AR 1
PCCA NM_000282.3 AR 1 1 1
PCCB NM_000532.4 AR 1 1 1
PCDH19 NM_001184880.1 XL 1

PCSK1 NM_000439.4 AD/AR 1 1

PCSK9 NM_174936.3 AD 1
PCYT1A NM_005017.3 AR 1
PDCD10 NM_145860.1 AD 1
PDE1A NM_005019.4 HYPOTHESIS 1
PDE6D NM_002601.3 AR 1
PDHA1 NM_000284.3 XL 1 1
PDHX NM_003477.2 AR 1
PDLIM3 NM_014476.5 AD 1
PDSS1 NM_014317.4 AR 1
PDSS2 NM_020381.3 AR 1
PDX1 NM_000209.3 AD/AR 1
PET100 NM_001171155.1 AR 1
PEX1 NM_000466.2 AR 1 1 1
PEX10 NM_153818.1 AR 1 1
PEX11B NM_003846.2 AR 1 1
PEX12 NM_000286.2 AR 1 1 1
PEX13 NM_002618.3 AR 1 1
PEX14 NM_004565.2 AR 1 1
PEX16 NM_004813.2 AR 1 1
PEX19 NM_002857.3 AR 1
PEX2 NM_000318.2 AR 1 1
PEX26 NM_017929.5 AR 1 1
PEX3 NM_003630.2 AR 1 1
PEX5 NM_001131025.1 AR 1 1
PEX6 NM_000287.3 AR 1 1 1
PEX7 NM_000288.3 AR 1 1 1
PGAP2 NM_001256240.1 AD 1
PGAP3 NM_033419.4 AD 1 1
PGK1 NM_000291.3 XLR 1
PGM1 NM_002633.2 AR 1 1
PGM3 NM_001199917.1 AR 1
PHEX NM_000444.5 XLD 1
PHF21A NM_001101802.1 de novo 1

PHF6 NM_032458.2 XL 1 1 1
PHF8 NM_015107.2 XL 1
PHGDH NM_006623.3 AR 1 1
PHIP NM_017934.6 AD 1 1
PHKA2 NM_000292.2 XLR 1
PHKB NM_000293.2 AR 1
PHOX2B NM_003924.3 AD 1
PIEZO2 NM_022068.3 AD 1
PIGA NM_002641.3 XLID 1 1
PIGK NM_005482.2 AR 1
PIGL NM_004278.3 AR 1
PIGN NM_176787.4 AR 1 1
PIGO NM_032634.3 AD 1
PIGT NM_015937.5 AR 1
PIGV NM_017837.3 AR 1
PIK3CA NM_006218.3 AD 1 1
PIK3R1 NM_181523.2 AD 1
PIK3R2 NM_005027.3 AD 1 1
PITX2 NM_153427.2 AD 1 1
PKD1 NM_001009944.2 AD 1 1 1
PKD1L1 NM_138295.4 AR 1
PKD2 NM_000297.3 AD 1 1
PKHD1 NM_138694.3 AR 1 1
PKP2 NM_004572.3 AD 1
PLCB1 NM_015192.3 AR 1
PLCE1 NM_016341.3 AR 1
PLEC NM_000445.4 AD/AR 1
PLG NM_000301.3 AR 1 1
PLIN1 NM_002666.4 AD 1
PLN NM_002667.4 AD 1
PLOD1 NM_000302.3 AR 1 1 1
PLP1 NM_000533.4 XL 1
PLXNA1 NM_032242.3 AD 1
PLXNA2 NM_025179.3 AD 1
PLXNA3 NM_017514.4 AD 1
PLXNA4 NM_020911.1 AD 1
PMM2 NM_000303.2 AR 1 1 1 1
PMPCB NM_004279.2 AR 1
PNKP NM_007254.3 AR 1
PNLIP NM_000936.3 AR 1
PNPLA2 NM_020376.3 AR 1
PNPLA3 NM_025225.2 AD/AR 1 1
PNPLA5 NM_138814.3 AD 1
PNPLA6 NM_006702.4 AR 1
1
PNPO NM_018129.3 AR 1
POC1A NM_015426.4 AR 1 1 1
POC1B NM_172240.2 HYPOTHESIS 1
POGZ NM_015100.3 AD 1 1
POLD1 NM_002691.3 AD 1
POLG NM_002693.2 AD/AR 1 1 1 1
POLR2A NM_000937.4 de novo 1

POMC NM_001035256.2 AR 1 1
POMGNT1 NM_017739.3 AR 1 1
POMT1 NM_007171.3 AR 1 1
POMT2 NM_013382.5 AR 1
POR NM_000941.2 AR 1
PORCN NM_203475.2 XL 1 1
POU1F1 NM_000306.3 AD 1
POU3F3 NM_006236.2 de novo 1

PPARG NM_015869.4 AD/AR 1 1 1

PPCS NM_024664.3 AR 1
PPOX NM_000309.4 AD 1
PPP1CB NM_206876.1 AD 1 1
PPP1R15B NM_032833.4 AR 1 1
PPP2CA NM_002715.3 de novo 1

PPP2R5D NM_006245.3 de novo 1

PPT1 NM_000310.3 AR 1
PQBP1 NM_005710.2 XL 1 1
PRDM16 NM_022114.3 AD 1
PRDM6 NM_001136239.3 AD 1
PRICKLE1 NM_153026.2 AD/AR 1
PRKAG2 NM_016203.3 AD 1
PRKAR1A NM_002734.4 AD 1
PRKCD NM_006254.3 AR 1
PRKD1 NM_002742.2 AD 1
PRKG1 NM_006258.3 AD 1
PRKRA NM_003690.4 AR 1
PRMT7 NM_019023.3 AR 1 1
PROC NM_000312.3 AD/AR 1
PRODH NM_016335.4 AD/AR 1 1
PROK2 NM_001126128.1 AR 1 1
1
PROKR2 NM_144773.3 AD/AR 1 1 1
1
PROS1 NM_000313.3 AR 1
PRPS1 NM_002764.3 XL 1 1
PRRT2 NM_145239.2 AD/AR 1 1
PRSS1 NM_002769.4 AD 1
PRSS12 NM_003619.3 HYPOTHESIS 1

PSAP NM_002778.3 AR 1 1
PSEN1 NM_000021.3 AD 1
PSEN2 NM_000447.2 AD 1
PSMB8 NM_148919.3 AR 1
PTCHD1 NM_173495.2 XL 1
PTEN NM_000314.6 AD 1 1
PTF1A NM_178161.2 AR 1
PTH NM_000315.3 AD 1
PTH1R NM_000316.2 AD/AR 1
PTPN11 NM_002834.4 AD 1 1 1 1
PTPRO NM_030667.2 AR 1
PTS NM_000317.2 AR 1
PUF60 NM_078480.2 AD 1 1 1
PURA NM_005859.4 AD 1
PUS1 NM_025215.5 AR 1
PYGM NM_005609.3 AR 1 1
QARS1 NM_005051.2 AR 1
QRICH1 NM_017730.3 AD 1
RAB18 NM_021252.4 AR 1
RAB23 NM_183227.2 AR 1 1 1 1
RAB39B NM_171998.3 XL 1
RAB3GAP1 NM_012233.2 AR 1
RAB3GAP2 NM_012414.3 AR 1 1
RAD21 NM_006265.2 AD/AR 1 1 1
RAD51C NM_058216.2 AR 1
RAF1 NM_002880.3 AD 1 1
RAI1 NM_030665.3 AD 1 1 1 1
RALGAPA1 NM_014990.2 AR 1
RANGRF NM_016492.4 AD 1
RAP1A NM_001010935.2 HYPOTHESIS 1

RAP1B NM_015646.5 AR 1
RASA1 NM_002890.2 AD 1 1 1
RASA2 NM_006506.3 AD 1
RBBP8 NM_002894.2 AR 1
RBM10 NM_005676.4 XL 1 1 1
RBM20 NM_001134363.2 AD 1
RBM8A NM_005105.4 AR 1 1
RECQL4 NM_004260.3 AR 1
RELN NM_005045.3 AD/AR 1
REN NM_000537.3 AD/AR 1
RERE NM_012102.3 AD 1 1
RET NM_020975.5 AD 1 1
RFX6 NM_173560.3 AD/AR 1
RIMS2 NM_014677.4 AR 1 1
RIN2 NM_018993.3 AR 1
RIPK4 NM_020639.2 AR 1
RIPPLY2 NM_001009994.2 AR 1

RIT1 NM_006912.5 AD 1 1
RLIM NM_183353.2 HYPOTHESIS 1
RMND1 NM_017909.3 AR 1
RNF135 NM_032322.3 AD 1
RNF213 NM_001256071.2 AD 1

RNF216 NM_207111.3 AR
1
RNU4ATAC NR_023343.1 AR 1
ROBO2 NM_002942.4 AD 1
ROBO4 NM_019055.5 AD 1
ROR2 NM_004560.3 AR 1 1
RORA NM_134261.2 AD 1 1
RPGRIP1L NM_015272.4 AR 1 1
RPL10 NM_006013.4 XL 1
RPL11 NM_000975.4 AD 1
RPL26 NM_000987.4 AD 1
RPL35A NM_000996.3 AD 1
RPL5 NM_000969.4 AD 1
RPS10 NM_001014.4 AD 1
RPS17 NM_001021.6 AD 1
RPS19 NM_001022.3 AD 1
RPS24 NM_033022.3 AD 1
RPS26 NM_001029.4 AD 1
RPS28 NM_001031.4 AD 1
RPS29 NM_001032.4 AD 1
RPS6KA3 NM_004586.2 XL 1 1
RPS7 NM_001011.3 AD 1
RRAS NM_006270.4 AD 1 1
RRAS2 NM_012250.5 AD 1 1
RRM2B NM_015713.4 AD/AR 1
RSPH1 NM_080860.3 AR 1
RSPH3 NM_031924.5 AR 1
RSPH4A NM_001010892.2 AR 1

RSPH9 NM_152732.4 AR 1
RTTN NM_173630.3 AR 1
RYR2 NM_001035.2 AD 1
SALL1 NM_002968.2 AD 1 1
SALL4 NM_020436.4 AD 1 1
SAR1B NM_001033503.2 AR 1
SARS2 NM_017827.3 AR 1
SASH1 NM_015278.4 AD 1
SATB2 NM_015265.3 AD 1
SBDS NM_016038.3 AR 1
SC5D NM_006918.4 AR 1
SCAF4 NM_020706.2 AD 1
SCARB1 NM_005505.4 AD 1
SCARB2 NM_005506.3 AR 1 1
SCLT1 NM_144643.3 AR 1
SCN10A NM_006514.3 AD 1 1
SCN1A NM_001165963.2 AD 1 1 1
SCN1B NM_001037.4 AD 1 1
SCN2A NM_021007.3 AD 1
SCN2B NM_004588.4 AD 1
SCN3B NM_018400.3 AD 1
SCN4A NM_000334.4 AD 1 1
SCN4B NM_174934.3 AD 1
SCN5A NM_198056.2 AD/AR 1
SCN8A NM_014191.3 AD 1 1
SCN9A NM_002977.3 AD 1
SCNN1A NM_001038.5 AD/AR 1 1
SCNN1B NM_000336.2 AD/AR 1
SCNN1G NM_001039.3 AD/AR 1
SCO1 NM_004589.3 AR 1
SCO2 NM_005138.2 AR 1
SCUBE3 NM_152753.4 AR 1
SCYL1 NM_020680.3 AR 1
SDCCAG8 NM_006642.4 AR 1 1 1
SDHA NM_004168.3 AD/AR 1
SDHB NM_003000.2 AD 1 1
SDHC NM_003001.3 AD 1 1
SDHD NM_003002.3 AD 1 1
SELENON NM_020451.2 AR 1
SEMA3A NM_006080.2 AD 1 1
1
SEMA3B NM_004636.3 AD 1
SEMA3C NM_006379.4 AD 1
SEMA3D NM_152754.2 AD 1 1
SEMA3E NM_012431.2 AD 1 1 1
SEMA3F NM_004186.4 AD 1
SEMA3G NM_020163.2 AD 1
SEMA5A NM_003966.2 de novo 1 1

SERPINA1 NM_000295.4 AR 1
SERPINH1 NM_001235.3 AR 1
SET NM_001122821.1 AD 1
SETBP1 NM_015559.2 AD 1 1
SETD1A NM_014712.2 AD 1
SETD2 NM_014159.6 AD 1
SETD5 NM_001080517.2 AD 1 1
SF3B4 NM_005850.4 AD 1 1
SGCA NM_000023.3 AR 1
SGCB NM_000232.4 AR 1
SGCD NM_000337.5 AD 1
SGCG NM_000231.2 AR 1
SGK1 NM_005627.3 HYPOTHESIS 1
SGSH NM_000199.4 AR 1
SH2B1 NM_001145795.1 AD 1
SH3PXD2B NM_001017995.2 AR 1

SHANK1 NM_016148.4 AD 1
SHANK2 NM_012309.4 AD 1
SHANK3 NM_001372044.1 AD 1 1

SHH NM_000193.3 AD 1
SHOC2 NM_007373.3 AD 1 1
SI NM_001041.3 AR 1
SIM1 NM_005068.2 AD 1
SIX1 NM_005982.3 AD 1
SIX2 NM_016932.4 AD 1
SIX5 NM_175875.4 AD 1
SKI NM_003036.3 AD 1 1
SLC10A2 NM_000452.2 AD 1
SLC12A1 NM_000338.2 AR 1
SLC12A3 NM_000339.2 AR 1 1
SLC13A5 NM_177550.4 HYPOTHESIS 1

SLC16A1 NM_003051.3 AD 1
SLC16A12 NM_213606.3 AR 1
SLC16A2 NM_006517.4 XL 1
SLC17A5 NM_012434.4 AD 1
SLC19A2 NM_006996.2 AD/AR 1 1 1
SLC1A1 NM_004170.5 AR 1 1
SLC22A12 NM_144585.3 AR 1
SLC22A5 NM_003060.3 AR 1 1
SLC25A1 NM_005984.4 AR 1
SLC25A13 NM_014251.2 AR 1 1
SLC25A15 NM_014252.3 AR 1
SLC25A20 NM_000387.5 AR 1 1
SLC25A22 NM_024698.5 AR 1
SLC25A3 NM_005888.3 AR 1
SLC25A4 NM_001151.3 AD 1
SLC26A1 NM_213613.3 AR 1
SLC26A4 NM_000441.1 AR/digenic avec SLC26A4
1
SLC26A6 NM_022911.2 HYPOTHESIS 1

SLC2A1 NM_006516.2 AD 1
SLC2A10 NM_030777.3 AR 1 1 1
SLC2A2 NM_000340.1 AR 1 1
SLC2A9 NM_020041.2 AD 1
SLC30A10 NM_018713.2 AR 1
SLC34A1 NM_003052.4 AD/AR 1
SLC34A3 NM_080877.2 AR 1
SLC35A2 NM_001042498.2 XL 1

SLC35A3 NM_012243.2 AR 1
SLC35C1 NM_018389.4 AR 1
SLC36A2 NM_181776.2 AR 1
SLC37A4 NM_001164277.1 AR 1

SLC39A13 NM_152264.4 AR 1
SLC3A1 NM_000341.3 AR 1
SLC41A1 NM_173854.5 AR 1
SLC45A1 NM_001080397.2 AR 1

SLC46A1 NM_080669.5 AR 1
SLC4A1 NM_000342.3 AD/AR 1
SLC4A4 NM_003759.3 AR 1
SLC5A2 NM_003041.3 AD 1
SLC6A1 NM_003042.3 AD 1
SLC6A19 NM_001003841.2 AR 1

SLC6A20 NM_020208.3 AD 1
SLC6A4 NM_001045.5 HYPOTHESIS 1

SLC6A8 NM_005629.3 XLR 1 1

SLC7A7 NM_001126106.2 AR 1

SLC7A9 NM_014270.4 AD/AR 1

SLC9A3R1 NM_004252.4 AD 1
SLC9A6 NM_006359.2 XL 1
SLCO1B1 NM_006446.4 AR 1
SLCO1B3 NM_019844.3 AR 1
SLIT2 NM_004787.3 AD 1
SLMAP NM_007159.4 AD 1
SLX4 NM_032444.3 AR 1
SMAD1 NM_005900.2 AD 1
SMAD2 NM_005901.5 AD 1
SMAD3 NM_005902.3 AD 1 1 1
SMAD4 NM_005359.5 AD 1 1 1
SMAD6 NM_005585.4 AD 1
SMAD9 NM_001127217.2 AD 1
SMARCA2 NM_003070.4 AD 1
SMARCA4 NM_001128849.1 AD 1 1

SMARCAL1 NM_014140.3 AR 1 1
SMARCB1 NM_003073.4 AD 1 1
SMARCC2 NM_003075.4 de novo 1

SMARCE1 NM_003079.4 AD 1 1 1
SMC1A NM_006306.3 XLD 1 1 1 1
SMC3 NM_005445.3 AD 1 1 1
SMG8 NM_018149.6 AR 1
SMO NM_005631.4 AR 1
SMOC1 NM_001034852.2 AR 1
SMPD1 NM_000543.4 AR 1 1
SMPD4 NM_017951.4 AR 1
SMS NM_004595.4 XL 1
SNTA1 NM_003098.2 AD 1
SOBP NM_018013.3 HYPOTHESIS 1
SON NM_032195.2 AD 1 1
SORT1 NM_002959.6 AD 1 1
SOS1 NM_005633.3 AD 1 1
SOS2 NM_006939.3 AD 1 1
SOX10 NM_006941.3 AR 1 1 1
SOX11 NM_003108.3 AD 1 1
SOX17 NM_022454.3 AD 1 1
SOX18 NM_018419.2 AD/AR 1 1
1
SOX3 NM_005634.2 XL 1
SOX5 NM_006940.5 AD 1
SOX6 NM_033326.3 de novo 1
SOX9 NM_000346.3 AD 1
SPAG1 NM_172218.2 AR 1
SPECC1L NM_015330.4 AD 1
SPEG NM_005876.4 AD 1
SPINK1 NM_003122.4 AD 1
SPINT2 NM_021102.3 AR 1
SPP1 NM_001040058.1 HYPOTHESIS 1

SPRED1 NM_152594.2 AD 1 1
SPRTN NM_032018.6 AR 1
SPTAN1 NM_001130438.2 AD 1

SRCAP NM_006662.2 AD 1 1 1
SRD5A3 NM_024592.4 AR 1 1
SREBF1 NM_004176.4 AD 1 1
SREBF2 NM_004599.3 AD 1
SRGAP1 NM_020762.3 AD 1
SRGAP3 NM_014850.3 AD 1
ST3GAL3 NM_006279.4 AR 1
ST3GAL5 NM_003896.3 AR 1
STAG1 NM_005862.2 AD 1
STAG2 NM_001042749.2 XL 1
STAMBP NM_006463.5 AR 1 1
STAP1 NM_012108.3 AD 1
STAR NM_000349.2 AR 1
STAT3 NM_139276.2 AD 1
STIL NM_003035.2 AR 1
STK11 NM_000455.4 AD 1
STK39 NM_013233.2 HYPOTHESIS 1
STRA6 NM_022369.3 AR 1 1
STRADA NM_001003787.2 AR 1

STUB1 NM_005861.3 AR 1
STX16 NM_001001433.2 AD 1 1 1
STX1A NM_004603.3 HYPOTHESIS 1
STX1B NM_052874.4 AD 1
STXBP1 NM_003165.3 AD 1
SUCLA2 NM_003850.2 AR 1
SUGCT NM_024728.2 AR 1
SYN1 NM_133499.2 XL 1
SYNE1 NM_033071.3 AD/AR 1 1
SYNE2 NM_182914.2 AR 1
SYNGAP1 NM_006772.2 AD 1
SYNJ1 NM_003895.3 AR 1
SYNPO2 NM_133477.2 HYPOTHESIS 1

SYP NM_003179.2 XL 1
SZT2 NM_015284.3 AR 1
TAB2 NM_015093.5 AD 1 1
TAC3 NM_013251.3 AR 1
TACO1 NM_016360.3 AR 1
TACR3 NM_001059.2 AR 1
TAF1 NM_004606.4 HYPOTHESIS 1
TALDO1 NM_006755.1 AR 1
TAOK1 NM_020791.2 de novo 1
TAOK2 NM_016151.3 de novo 1
TAPT1 NM_153365.2 AR 1
TAZ NM_000116.4 XLR 1
TBC1D20 NM_144628.3 AR 1
TBC1D24 NM_001199107.1 AR 1 1 1

TBC1D4 NM_014832.4 AD 1
TBC1D8B NM_017752.2 XLR 1
TBCE NM_003193.4 AR 1
TBL1XR1 NM_024665.5 AD 1
TBR1 NM_006593.3 AD 1
TBX1 NM_080647.1 AD 1 1 1
TBX18 NM_001080508.2 AD 1
TBX20 NM_001077653.2 AD 1
TBX3 NM_005996.3 AD 1 1 1
TBX4 NM_018488.3 AD 1
TBX5 NM_000192.3 AD 1
TCAP NM_003673.3 AD/AR 1
TCF20 NM_005650.3 AD 1
TCF4 NM_001083962.1 AD 1
TCTN1 NM_001082538.2 AR 1
TCTN2 NM_024809.4 AR 1 1
TCTN3 NM_015631.5 AR 1 1
TDGF1 NM_003212.3 AD 1
TECR NM_138501.5 AR 1
TECRL NM_001010874.4 AR 1
TERC NR_001566.1 AD 1 1
TERT NM_198253.2 AD/AR 1 1
TET2 NM_001127208.2 AD 1
TFAP2A NM_001372066.1 AD 1

TFAP2B NM_003221.3 AD 1
TGDS NM_014305.3 AR 1
TGFB2 NM_003238.4 AD 1 1
TGFB3 NM_003239.4 AD 1 1
TGFBR1 NM_004612.3 AD 1 1
TGFBR2 NM_003242.5 AD 1 1
TGFBR3 NM_003243.4 AD 1
THBD NM_000361.2 AD 1
THOC6 NM_024339.4 AR 1 1
THRA NM_199334.3 AD 1 1
TIMM8A NM_004085.3 XL 1
TJP2 NM_004817.3 AD/AR 1
TK2 NM_004614.4 AR 1
TKT NM_001135055.2 AD 1
TLK2 NM_006852.3 AD 1
TLL1 NM_012464.4 AD 1
TM6SF2 NM_001001524.2 HYPOTHESIS 1

TMCO1 NM_019026.4 AR 1
TMEM107 NM_032354.4 AR 1
TMEM138 NM_016464.4 AR 1
TMEM199 NM_152464.2 AD 1 1
TMEM216 NM_001173990.2 AR 1 1 1

TMEM231 NM_001077416.2 AR 1 1

TMEM237 NM_001044385.2 AR 1

TMEM43 NM_024334.2 AD 1
TMEM67 NM_153704.5 AR 1 1 1
TMEM70 NM_017866.5 AR 1 1
TMEM94 NM_014738.5 AR 1 1
TMLHE NM_018196.3 HYPOTHESIS 1
TMPO NM_003276.2 AD 1
TMX2 NM_015959.3 AR 1
TNFRSF1A NM_001065.3 AD 1
TNK2 NM_001010938.1 AR 1
TNNC1 NM_003280.2 AR 1
TNNI3 NM_000363.4 AD/AR 1
TNNI3K NM_015978.2 AD 1
TNNT2 NM_001001430.2 AD 1
TNXB NM_019105.6 AR 1 1
TOPBP1 NM_007027.3 AD 1
TOR1AIP1 NM_001267578.1 AR 1

TP63 NM_003722.4 AD 1
TPM1 NM_001018005.1 AD 1
TPP1 NM_000391.3 AR 1
TRAF3IP1 NM_015650.3 AR 1
TRAF7 NM_032271.2 de novo 1
TRAIP NM_005879.2 AR 1
TRAP1 NM_016292.2 AR 1
TRAPPC9 NM_031466.7 AR 1 1
TRDN NM_006073.3 AR 1
TREX1 NM_033629.5 AD 1 1 1
TRIB1 NM_025195.3 AD 1
TRIM32 NM_012210.3 AR 1 1 1 1
TRIM63 NM_032588.3 AD 1
TRIO NM_007118.3 AD 1
TRIP12 NM_004238.2 AD 1 1
TRMT10A NM_152292.4 AR 1
TRMT5 NM_020810.3 AR 1
TRMU NM_018006.4 AR 1
TRNT1 NM_182916.2 AR 1
TRPC5 NM_012471.2 HYPOTHESIS 1
TRPC6 NM_004621.5 AD 1
TRPM4 NM_017636.3 AD 1
TRPM6 NM_017662.4 AR 1
TRPM7 NM_017672.5 HYPOTHESIS 1
TRPS1 NM_014112.4 AD 1
TRPV5 NM_019841.6 HYPOTHESIS 1
TRPV6 NM_018646.5 HYPOTHESIS 1
TRRAP NM_003496.3 de novo 1
TSC1 NM_000368.4 AD 1 1 1 1
TSC2 NM_000548.4 AD 1 1 1 1
TSFM NM_001172696.1 AR 1
TSPAN7 NM_004615.3 XL 1
TSPYL1 NM_003309.3 AR 1
TSR2 NM_058163.2 XLR 1
TTC21B NM_024753.4 AR 1
TTC37 NM_014639.3 AR 1
TTC8 NM_198309.3 AR 1 1 1 1
TTN NM_133378.4 AD/AR 1
TTR NM_000371.3 AD 1 1 1
TUB NM_003320.4 AR 1
TUBA1A NM_006009.3 AD 1
TUBB2B NM_178012.4 AD 1
TUBGCP2 NM_001256617.1 AR 1

TUSC3 NM_006765.3 AR 1
TWIST1 NM_000474.3 AD 1 1
TWIST2 NM_057179.2 AD/AR 1
TWNK NM_021830.4 AD/AR 1
TXNL4A NM_006701.4 AR 1
TXNRD2 NM_006440.4 AD 1
UBE2A NM_003336.3 XL 1 1
UBE2T NM_014176.3 AR 1
UBE3A NM_130838.2 AD 1 1
UBE3B NM_130466.3 AR 1
UBR1 NM_174916.2 AR 1 1 1
UCP2 NM_003355.2 AD 1
UCP3 NM_003356.3 AD 1
UGT1A1 NM_000463.2 AR 1
UMOD NM_003361.3 AD 1
UMPS NM_000373.3 AR 1
UPB1 NM_016327.2 AR 1 1
UPF3B NM_080632.2 XL 1 1
UPK3A NM_006953.3 AD 1
UQCC2 NM_032340.3 AR 1
UQCRFS1 NM_006003.2 AR 1 1
UROC1 NM_144639.2 AR 1
UROD NM_000374.4 AD/AR 1
UROS NM_000375.2 AR 1
USP27X NM_001145073.2 HYPOTHESIS 1

USP9X NM_001039590.2 XLD 1 1

UTP4 NM_032830.2 AD 1
VANGL1 NM_138959.2 AD 1
VCL NM_014000.2 AD 1
VCP NM_007126.4 AD 1 1
VDR NM_001017535.1 AR 1
VEGFA NM_001025366.2 AD 1
VHL NM_000551.3 AD/AR 1 1 1
VIPAS39 NM_022067.3 AR 1 1
VLDLR NM_003383.4 AR 1
VPS13B NM_017890.4 AR 1 1
VPS33B NM_018668.4 AR 1 1
VPS4A NM_013245.3 de novo 1
WAC NM_016628.4 AD 1
WAS NM_000377.2 XLR 1
WASF1 NM_003931.2 de novo 1
WDPCP NM_015910.6 AD/AR 1 1 1 1
WDR11 NM_018117.11 AD
1
WDR19 NM_025132.3 AR 1
WDR34 NM_052844.3 HYPOTHESIS 1
WDR35 NM_001006657.1 AR 1 1
WDR37 NM_014023.3 de novo 1
WDR45 NM_007075.3 XL 1
WDR45B NM_019613.3 HYPOTHESIS 1

WDR60 NM_018051.4 HYPOTHESIS 1

WDR62 NM_001083961.1 AR 1
WDR72 NM_182758.3 AR 1
WDR73 NM_032856.3 AR 1
WFS1 NM_006005.3 AD/AR 1 1
WNK1 NM_018979.3 AD 1
WNK3 NM_020922.4 de novo 1
WNK4 NM_032387.4 AD 1
WNT3 NM_030753.4 AR 1
WNT4 NM_030761.4 AD 1
WNT5A NM_003392.4 AD/AR 1
WNT7A NM_004625.3 AR 1
WRN NM_000553.5 AR 1
WT1 NM_024426.5 AD 1
WWOX NM_016373.3 AR 1
XDH NM_000379.3 AR 1
XIRP1 NM_194293.3 AD 1
XIRP2 NM_001199143.1 AD 1
XK NM_021083.3 XLR 1
XPNPEP3 NM_022098.3 AR 1 1
XPO5 NM_020750.2 AR 1
XRCC4 NM_022406.3 AR 1
XYLT2 NM_022167.3 HYPOTHESIS 1
YAP1 NM_001130145.2 AD/HYPOTHESIS 1 1

YIPF5 NM_001024947.3 AR 1 1
YWHAE NM_006761.4 HYPOTHESIS 1 1
YY1AP1 NM_001198903.1 AR 1 1 1

ZAP70 NM_001079.3 AR 1
ZBTB17 NM_003443.2 AD 1
ZBTB18 NM_205768.2 AD 1
ZBTB20 NM_001164342.2 AD 1

ZC3H14 NM_024824.4 HYPOTHESIS 1

ZC4H2 NM_018684.3 HYPOTHESIS 1

ZDHHC15 NM_144969.2 HYPOTHESIS 1

ZDHHC9 NM_016032.3 XL 1 1
ZEB2 NM_014795.3 AD 1 1
ZFHX4 NM_024721.4 HYPOTHESIS 1
ZFP57 NM_001109809.2 AR 1
ZFPM2 NM_012082.3 AD/AR 1
ZHX3 NM_015035.3 AD 1
ZIC3 NM_003413.3 XLR 1 1
ZMIZ1 NM_020338.3 de novo 1
ZMPSTE24 NM_005857.4 AD/AR 1 1 1
ZMYM2 NM_003453.4 AD 1
ZMYM3 NM_201599.2 HYPOTHESIS 1
ZMYND10 NM_015896.3 AR 1
ZMYND11 NM_006624.5 AD 1
ZNF292 NM_015021.2 AD 1
ZNF423 NM_015069.4 AD 1 1
ZNF526 NM_133444.2 HYPOTHESIS 1

ZNF687 NM_020832.2 AD 1
ZNF711 NM_021998.4 XL 1
ZNF81 NM_007137.3 HYPOTHESIS 1
MANF NM_006010.5 AR 1 1