Gene Scoring 1068 total scored genes, 94 uncategorized

Database updated on January 16, 2024

Scoring process

We recognize that the gene scoring process we developed is only one of many methodologies that could have been employed to evaluate these genes. Our goal is to encourage more research, not less, and we hope that researchers will use these evaluations to design new experiments aimed at strengthening the evidence associating each gene with ASD. For more information on our scoring process, visit the About Gene Scoring page.

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S Category S   [194 genes]

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S9
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, Syndromic3S5
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S78
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S9
AGO2argonaute RISC catalytic component 28Rare Single Gene Mutation, Syndromic2S2
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S27
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S15
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S70
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S6
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic2S5
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S17
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S83
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic2S15
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S27
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S49
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic2S8
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional2S24
ATP2B1ATPase plasma membrane Ca2+ transporting 112Rare Single Gene Mutation, Syndromic3S2
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
BICRABRD4 interacting chromatin remodeling complex associated protein19Rare Single Gene Mutation, Syndromic2S2
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S17
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic, Functional1S12
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S37
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S62
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S12
CBX1chromobox 117Rare Single Gene Mutation, Syndromic3S3
CDH2cadherin 218Rare Single Gene Mutation, Syndromic3S8
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S57
CELF2CUGBP Elav-like family member 210Rare Single Gene Mutation, Syndromic2S4
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic2S13
CERT1ceramide transporter 15Rare Single Gene Mutation, Syndromic3S7
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic, Functional1S16
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation, Syndromic2S11
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic, Functional1S75
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S16
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S45
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S99
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic2S11
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic, Functional2S13
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic2S8
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S19
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S96
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S39
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic, Functional1S7
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional1S16
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S24
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic2S13
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S50
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S30
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S19
DHX9DExH-box helicase 91Rare Single Gene Mutation, Syndromic3S5
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic2S6
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S12
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S31
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S75
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S22
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S39
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S26
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic2S12
FGF13fibroblast growth factor 13XSyndromic3S2
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S66
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S55
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional2S14
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic1S5
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association2S18
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 115Rare Single Gene Mutation, Syndromic, Functional2S14
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S13
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation, Syndromic2S5
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation, Syndromic, Functional2S7
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S39
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation, Syndromic2S4
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S50
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S14
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S11
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic, Functional2S30
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic, Genetic Association1S25
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S4
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S14
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic, Functional2S14
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S48
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S35
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S18
MACF1microtubule actin crosslinking factor 11Rare Single Gene Mutation, Syndromic, Functional3S9
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S24
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S43
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S17
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S122
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic2S7
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S12
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S53
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S49
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S12
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic1S6
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S33
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunitXRare Single Gene Mutation, Syndromic3S13
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S22
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S10
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S25
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic2S6
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S18
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S26
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S12
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic, Functional1S33
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S12
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association2S8
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic3S6
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic, Functional1S18
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S11
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S56
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S15
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S25
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S61
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S11
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S11
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S10
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic2S10
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic, Functional1S31
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S12
PRODHProline dehydrogenase (oxidase) 122Rare Single Gene Mutation, Syndromic, Genetic Association2S8
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S9
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S7
PSMD12proteasome 26S subunit, non-ATPase 1217Rare Single Gene Mutation, Syndromic1S5
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S97
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S26
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S34
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S15
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S4
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S6
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association2S5
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S13
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic2S18
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic1S4
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association2S44
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic2S6
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S94
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S11
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S19
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic, Functional1S37
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S146
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S17
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S6
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S55
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S22
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S28
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S18
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic2S13
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S24
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S22
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S11
SRRM2serine/arginine repetitive matrix 216Rare Single Gene Mutation, Syndromic2S13
SRSF1serine and arginine rich splicing factor 117Rare Single Gene Mutation, Syndromic3S4
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S70
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation, Syndromic2S8
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S98
TAF4TATA-box binding protein associated factor 420Rare Single Gene Mutation, Syndromic2S5
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S16
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic, Functional1S11
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S4
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S2
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S25
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S69
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S21
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S10
TRIM8tripartite motif containing 810Rare Single Gene Mutation, Syndromic3S5
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S37
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic, Functional2S14
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S35
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S51
TTNtitin2Rare Single Gene Mutation, Syndromic2S31
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S44
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic2S10
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic, Functional2S13
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S15
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S29
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S29
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S12
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S9
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S29
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S11
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S10
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic1S8
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S11
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic, Functional1S12

1 Category 1   [232 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABCE1ATP binding cassette subfamily E member 14Rare Single Gene Mutation13
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S9
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S78
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S9
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic121
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S27
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S15
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation, Functional132
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association, Functional132
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S70
ANP32Aacidic nuclear phosphoprotein 32 family member A15Rare Single Gene Mutation, Functional14
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation13
ARF3ADP ribosylation factor 312Rare Single Gene Mutation, Syndromic15
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S17
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S83
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S27
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional133
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S49
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic, Functional133
AUTS2activator of transcription and developmental regulatorAUTS27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional162
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation18
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation18
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S17
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic, Functional1S12
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S37
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S62
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation122
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation, Functional113
CAMTA2calmodulin binding transcription activator 217Rare Single Gene Mutation, Syndromic13
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Syndromic, Functional16
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic, Functional127
CASZ1castor zinc finger 11Rare Single Gene Mutation17
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S57
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional115
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic, Functional1S16
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic, Functional1S75
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S16
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S45
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S99
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Syndromic, Functional113
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S19
CORO1Acoronin 1A16Rare Single Gene Mutation13
CPSF7cleavage and polyadenylation specific factor 711Rare Single Gene Mutation17
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S39
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic, Functional1S7
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional1S16
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S24
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic137
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional134
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S50
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S30
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S19
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional113
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional123
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S12
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S31
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Syndromic, Genetic Association, Functional117
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional117
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic, Functional132
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S75
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S22
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S39
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation15
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation16
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S26
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S66
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S55
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional156
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation15
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association, Functional150
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation120
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation19
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic1S5
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation112
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional125
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional159
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional184
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation16
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation, Syndromic110
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S13
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic119
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S39
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S50
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S14
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S11
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation, Functional115
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic, Genetic Association1S25
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association, Functional120
KDM2Blysine demethylase 2B12Rare Single Gene Mutation, Syndromic, Functional110
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S4
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional124
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional138
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic, Functional121
KIAA0232KIAA02324Rare Single Gene Mutation14
KLHL20kelch like family member 201Rare Single Gene Mutation, Syndromic, Functional14
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S48
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S35
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S18
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional126
LDB1LIM domain binding 110Rare Single Gene Mutation13
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation12
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic118
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S24
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S43
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S17
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S122
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S12
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S53
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S49
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S12
MKXmohawk homeobox10Rare Single Gene Mutation13
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic1S6
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S33
MYCBP2MYC binding protein 213Rare Single Gene Mutation, Syndromic19
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional138
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S22
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S10
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S25
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic115
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation14
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional134
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S18
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional112
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional146
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association, Functional143
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S12
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic110
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1112
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional117
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional127
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic, Functional1S33
NUP155nucleoporin 1555Rare Single Gene Mutation14
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic, Functional1S18
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic111
PAX5Paired box 59Rare Single Gene Mutation110
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S11
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S56
PHF12PHD finger protein 1217Rare Single Gene Mutation14
PHF2PHD finger protein 29Rare Single Gene Mutation18
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S15
PHF3PHD finger protein 36Rare Single Gene Mutation15
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S25
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S61
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S10
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation14
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic, Functional1S31
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation13
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S7
PRR14Lproline rich 14 like22Rare Single Gene Mutation15
PSMD11proteasome 26S subunit, non-ATPase 1117Rare Single Gene Mutation12
PSMD12proteasome 26S subunit, non-ATPase 1217Rare Single Gene Mutation, Syndromic1S5
PSMD6proteasome 26S subunit, non-ATPase 63Rare Single Gene Mutation13
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association, Functional118
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S97
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation18
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S26
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S34
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation16
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional164
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S15
RFX3regulatory factor X39Rare Single Gene Mutation, Syndromic111
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association110
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S13
RUNX1T1RUNX1 partner transcriptional co-repressor 18Rare Single Gene Mutation13
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic1S4
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S94
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional1114
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic, Functional159
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic, Functional131
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S11
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic125
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic, Functional1S37
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional152
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S146
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S17
SKISKIproto-oncogene1Rare Single Gene Mutation16
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S55
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S22
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S28
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic, Functional122
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S18
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S24
SOS2SOS Ras/Rho guanine nucleotide exchange factor 214Rare Single Gene Mutation, Syndromic16
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S22
SPASTSpastin2Rare Single Gene Mutation, Syndromic117
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic114
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation13
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S70
SYN1Synapsin 1XRare Single Gene Mutation, Functional128
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S98
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S16
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic, Functional1S11
TBCELtubulin folding cofactor E like11Rare Single Gene Mutation13
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S4
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic, Functional134
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional142
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S25
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S69
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic, Functional113
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation13
TLE3TLE family member 3, transcriptional corepressor15Rare Single Gene Mutation15
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S21
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation14
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S10
TRIM23tripartite motif containing 235Rare Single Gene Mutation18
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional144
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S37
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S35
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S51
TSHZ1teashirt zinc finger homeobox 118Rare Single Gene Mutation, Syndromic16
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional15
UBAP2Lubiquitin associated protein 2 like1Rare Single Gene Mutation, Syndromic15
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S44
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation13
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S15
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation13
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S29
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S29
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional124
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S9
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S29
ZBTB21zinc finger and BTB domain containing 2121Rare Single Gene Mutation14
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic1S8
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S11
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic, Functional1S12

2 Category 2   [705 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABAT4-aminobutyrate aminotransferase16Rare Single Gene Mutation, Genetic Association27
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation23
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional211
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation26
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association25
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation27
ACTN4actinin alpha 419Rare Single Gene Mutation26
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association28
ADCY3adenylate cyclase 32Rare Single Gene Mutation24
ADCY5Adenylate cyclase 53Rare Single Gene Mutation210
ADKadenosine kinase10Rare Single Gene Mutation22
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional24
ADSS2adenylosuccinate synthase 21Rare Single Gene Mutation23
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation210
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation26
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation23
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association28
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation214
AGO2argonaute RISC catalytic component 28Rare Single Gene Mutation, Syndromic2S2
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation27
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation25
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation25
AHNAKAHNAKnucleoprotein11Rare Single Gene Mutation26
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation28
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association25
AMTAminomethyltransferase3Rare Single Gene Mutation22
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S6
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic2S5
ANXA1Annexin A19Rare Single Gene Mutation22
AP2M1adaptor related protein complex 2 subunit mu 13Rare Single Gene Mutation29
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation28
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional24
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation23
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation23
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional210
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation26
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional26
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic2S15
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association, Functional215
ADORA2Aadenosine A2a receptor22Genetic Association27
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association210
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation25
ASB14ankyrin repeat and SOCS box containing 143Rare Single Gene Mutation25
ARandrogen receptorXGenetic Association26
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association211
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic, Functional213
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association, Functional220
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional210
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic2S8
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional2S24
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association215
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation25
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association224
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation24
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic26
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation25
BICRABRD4 interacting chromatin remodeling complex associated protein19Rare Single Gene Mutation, Syndromic2S2
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation213
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation28
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic, Functional211
BST1bone marrow stromal cell antigen 14Rare Single Gene Mutation, Genetic Association, Functional26
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation29
BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase10Rare Single Gene Mutation24
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation23
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional28
BICDL1BICD family like cargo adaptor 112Genetic Association22
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional26
CA6carbonic anhydrase VI1Rare Single Gene Mutation27
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association213
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional231
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association29
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association225
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation233
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association210
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation, Syndromic28
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association, Functional212
CACNG2calcium voltage-gated channel auxiliary subunit gamma 222Rare Single Gene Mutation26
CADM1cell adhesion molecule 111Rare Single Gene Mutation210
CADM2Cell adhesion molecule 23Rare Single Gene Mutation, Genetic Association26
CADPScalcium dependent secretion activator3Rare Single Gene Mutation, Genetic Association25
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional213
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S12
CAMK4calcium/calmodulin dependent protein kinase IV5Rare Single Gene Mutation, Genetic Association26
CAPN12Calpain 1219Rare Single Gene Mutation27
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation22
CASKIN1CASK interacting protein 116Rare Single Gene Mutation, Functional28
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional217
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation29
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation26
CCINcalicin9Rare Single Gene Mutation22
CCNG1cyclin G15Rare Single Gene Mutation22
CCSER1coiled-coil serine rich protein 14Rare Single Gene Mutation24
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CD276CD276molecule15Rare Single Gene Mutation24
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional210
CD99L2CD99 molecule like 2XGenetic Association21
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation, Syndromic211
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association211
CDH11cadherin 1116Rare Single Gene Mutation, Syndromic, Functional28
CDH13cadherin 1316Rare Single Gene Mutation26
CDH8cadherin 8, type 216Rare Single Gene Mutation212
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association27
CDK16cyclin dependent kinase 16XRare Single Gene Mutation23
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation23
CELF2CUGBP Elav-like family member 210Rare Single Gene Mutation, Syndromic2S4
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association25
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic27
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic2S13
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic26
CGNL1Cingulin-like 115Rare Single Gene Mutation27
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation, Syndromic2S11
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association27
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation216
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation23
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation22
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation24
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic2S11
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic25
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation28
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association26
CMPK2cytidine/uridine monophosphate kinase 22Rare Single Gene Mutation24
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation26
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic, Functional2S13
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic2S8
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association28
CNTN3contactin 33Rare Single Gene Mutation26
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association, Functional227
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association211
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association217
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S96
CDH22cadherin-like 2220Genetic Association24
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional27
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional215
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association216
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation25
CPEB4cytoplasmic polyadenylation element binding protein 45Rare Single Gene Mutation, Functional23
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation24
CPZcarboxypeptidase Z4Rare Single Gene Mutation25
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association219
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional28
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association219
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation, Syndromic, Functional215
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic, Functional215
CUL7Cullin 76Rare Single Gene Mutation28
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional214
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic2S13
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional24
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional222
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation24
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional27
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation23
DCCDCCnetrin 1 receptor18Rare Single Gene Mutation, Genetic Association25
DDCdopa decarboxylase7Rare Single Gene Mutation, Genetic Association27
DDHD2DDHD domain containing 28Rare Single Gene Mutation, Genetic Association, Functional26
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation25
DENRdensity-regulated protein12Rare Single Gene Mutation, Functional24
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation25
DIPK2Adivergent protein kinase domain 2A3Rare Single Gene Mutation23
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association237
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional26
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation26
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation, Functional214
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional213
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation218
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional212
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic2S6
DLX3distal-less homeobox 317Rare Single Gene Mutation24
DLX6distal-less homeobox 67Rare Single Gene Mutation210
DMWDDM1 locus, WD repeat containing19Rare Single Gene Mutation24
DMXL2Dmx-like 215Rare Single Gene Mutation28
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation210
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation29
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation28
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association23
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic24
DLX2distal-less homeobox 22Genetic Association211
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation23
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association, Functional211
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation212
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation213
DPP3dipeptidyl peptidase 311Rare Single Gene Mutation24
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association26
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional228
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association215
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation23
DRD1Dopamine receptor D15Genetic Association, Functional24
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association27
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association29
DSTDystonin6Rare Single Gene Mutation211
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association27
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional26
DYDC1DPY30 domain containing 110Rare Single Gene Mutation22
DYDC2DPY30 domain containing 21021
ECPASEcm29 proteasome adaptor and scaffold9Rare Single Gene Mutation, Functional24
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation29
EGR3early growth response 38Rare Single Gene Mutation23
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association213
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional27
ELOVL2ELOVL fatty acid elongase 26Rare Single Gene Mutation, Genetic Association22
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional25
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional226
EP400E1A binding protein p40012Rare Single Gene Mutation, Functional210
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation26
EPHA1EPH receptor A17Rare Single Gene Mutation28
EPHB2EPH receptor B21Rare Single Gene Mutation, Functional29
EPPK1epiplakin 18Rare Single Gene Mutation28
ERBINerbb2 interacting protein5Rare Single Gene Mutation29
ERMNermin2Rare Single Gene Mutation21
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association29
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association29
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation25
EXOC3exocyst complex component 35Rare Single Gene Mutation23
EXOC5exocyst complex component 514Rare Single Gene Mutation22
EXOC6exocyst complex component 610Rare Single Gene Mutation23
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation25
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association27
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional28
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation21
FAM98Cfamily with sequence similarity 98 member C19Rare Single Gene Mutation23
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation, Genetic Association, Functional24
FAT1FAT atypical cadherin 14Rare Single Gene Mutation, Functional213
ERGERG, ETS transcription factor21Genetic Association21
FBN1Fibrillin 115Rare Single Gene Mutation214
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic2S12
FBXO33F-box protein 3314Rare Single Gene Mutation, Genetic Association24
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association26
FCRL6Fc receptor like 61Rare Single Gene Mutation24
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association29
FGAFibrinogen alpha chain4Rare Single Gene Mutation, Genetic Association25
FGFR1fibroblast growth factor receptor 18Genetic Association21
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association212
FRG1FSHD region gene 14Rare Single Gene Mutation22
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association23
G3BP2G3BP stress granule assembly factor 24Rare Single Gene Mutation26
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional2S14
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association, Functional29
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Rare Single Gene Mutation, Genetic Association213
GALNT10polypeptide N-acetylgalactosaminyltransferase 105Rare Single Gene Mutation, Genetic Association27
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation25
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association27
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation23
GAS2Growth arrest-specific 211Genetic Association21
GBE11,4-alpha-glucan branching enzyme 13Rare Single Gene Mutation24
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association23
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation23
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association23
GLO1glyoxalase I6Rare Single Gene Mutation, Genetic Association210
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation, Functional217
GNASGNAS complex locus20Rare Single Gene Mutation29
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association23
GPC4glypican 4XRare Single Gene Mutation22
GPC6glypican 613Rare Single Gene Mutation, Genetic Association28
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association25
GPHNGephyrin14Rare Single Gene Mutation210
GPR37G protein-coupled receptor 377Rare Single Gene Mutation23
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association25
GPX1glutathione peroxidase 13Rare Single Gene Mutation, Genetic Association26
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation, Syndromic212
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association27
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association211
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation25
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association222
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association27
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional27
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation210
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation214
GRK4G protein-coupled receptor kinase 44Rare Single Gene Mutation, Functional26
GRM5glutamate metabotropic receptor 511Rare Single Gene Mutation, Genetic Association, Functional211
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association, Functional218
GSTM1glutathione S-transferase M11Genetic Association23
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association23
H2BC11H2B clustered histone 116Rare Single Gene Mutation23
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association2S18
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic218
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 115Rare Single Gene Mutation, Syndromic, Functional2S14
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association29
HLA-Amajor histocompatibility complex, class I, A6Genetic Association210
HLA-BMajor histocompatibility complex, class I, B6Genetic Association25
HLA-DPB1major histocompatibility complex, class II, DP beta 16Rare Single Gene Mutation, Genetic Association22
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association211
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association24
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation, Syndromic2S5
HNRNPFheterogeneous nuclear ribonucleoprotein F10Rare Single Gene Mutation24
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation, Syndromic, Functional2S7
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation, Syndromic2S4
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional26
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Rare Single Gene Mutation, Genetic Association28
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Rare Single Gene Mutation, Syndromic29
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association26
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional29
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association28
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association25
ICA1islet cell autoantigen 17Rare Single Gene Mutation210
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation28
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation227
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association22
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation26
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association, Functional217
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association25
INTS6Integrator complex subunit 613Rare Single Gene Mutation26
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation26
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association, Functional222
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation216
ITSN1intersectin 121Rare Single Gene Mutation, Syndromic29
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association218
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation210
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation212
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation, Functional28
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic, Functional2S30
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional24
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation, Functional29
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association29
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association213
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association212
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation23
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation23
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation, Syndromic231
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association, Functional252
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation26
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation, Functional29
KDM1Blysine demethylase 1B6Rare Single Gene Mutation23
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Syndromic, Functional26
KDM4Clysine demethylase 4C9Rare Single Gene Mutation24
KDM5Alysine demethylase 5A12Rare Single Gene Mutation, Functional25
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic214
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation24
KIAA1586KIAA15866Rare Single Gene Mutation26
KIF13BKinesin family member 13B8Rare Single Gene Mutation24
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic26
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S14
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic, Functional2S14
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation219
KLF16Kruppel like factor 1619Rare Single Gene Mutation21
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Rare Single Gene Mutation, Genetic Association23
KRT26keratin 2617Rare Single Gene Mutation24
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association211
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association211
LEMD3LEM domain containing 312Rare Single Gene Mutation23
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation24
LEPLeptin7Rare Single Gene Mutation21
LHX2LIM homeobox 29Rare Single Gene Mutation, Syndromic24
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation23
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation23
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation29
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional26
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association, Functional27
LRP1LDL receptor related protein 112Rare Single Gene Mutation210
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association219
LRRC1leucine rich repeat containing 16Rare Single Gene Mutation, Genetic Association27
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional25
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association222
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional220
MAOBmonoamine oxidase BXRare Single Gene Mutation, Syndromic, Genetic Association, Functional26
MAP1Bmicrotubule associated protein 1B5Rare Single Gene Mutation, Syndromic, Functional213
MAP4K4mitogen-activated protein kinase kinase kinase kinase 42Rare Single Gene Mutation, Syndromic22
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional26
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association212
MARK2microtubule affinity regulating kinase 211Rare Single Gene Mutation25
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation29
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation24
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation27
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association24
MAPT-AS1MAPT antisense RNA 117Genetic Association21
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation23
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation24
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation, Syndromic24
MCPH1microcephalin 18Rare Single Gene Mutation219
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association29
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic2S7
MED23mediator complex subunit 236Rare Single Gene Mutation, Functional24
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association28
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation, Functional29
MEMO1mediator of cell motility 12Rare Single Gene Mutation, Functional22
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional241
METTL26methyltransferase like 2616Rare Single Gene Mutation22
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation28
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation210
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MLANAmelan-A9Rare Single Gene Mutation24
MNTMAX network transcriptional repressor17Genetic Association21
MRTFBmyocardin related transcription factor B16Rare Single Gene Mutation, Syndromic, Genetic Association212
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation22
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation25
MTF1metal-regulatory transcription factor 11Rare Single Gene Mutation, Syndromic, Genetic Association26
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional223
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation24
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation29
MYH10myosin heavy chain 1017Rare Single Gene Mutation28
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation27
MYH9myosin heavy chain 922Rare Single Gene Mutation28
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association210
MYO1Emyosin IE15Rare Single Gene Mutation26
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association27
MYO5Cmyosin VC15Rare Single Gene Mutation25
MYO9BMyosin IXB19Rare Single Gene Mutation26
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Rare Single Gene Mutation, Genetic Association24
NAV2neuron navigator 211Rare Single Gene Mutation, Syndromic213
NAV3neuron navigator 312Rare Single Gene Mutation25
NCKAP5NCK-associated protein 52Rare Single Gene Mutation23
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional211
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional26
NEO1Neogenin 115Rare Single Gene Mutation23
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation24
NFIAnuclear factor I/A1Rare Single Gene Mutation, Syndromic217
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic2S6
NINLNinein-like20Rare Single Gene Mutation210
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation26
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation23
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association, Functional221
NLGN4Yneuroligin 4, Y-linkedYRare Single Gene Mutation, Genetic Association, Functional26
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation24
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S26
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association26
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association210
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association23
NPAS2neuronal PAS domain protein 22Genetic Association24
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional213
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S12
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Rare Single Gene Mutation, Functional25
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association2S8
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic29
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association215
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation24
NUP133nucleoporin 133kDa1Rare Single Gene Mutation25
NXPH1neurexophilin 17Rare Single Gene Mutation26
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation, Syndromic25
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic218
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation24
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation24
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation23
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional27
OXToxytocin/neurophysin I prepropeptide20Rare Single Gene Mutation, Genetic Association25
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional250
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation25
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation25
PAFAH1B2platelet activating factor acetylhydrolase 1b catalytic subunit 211Rare Single Gene Mutation24
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation, Syndromic25
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation26
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association29
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation, Genetic Association26
PBX1PBX homeobox 11Rare Single Gene Mutation27
PCDH10protocadherin 104Rare Single Gene Mutation, Functional211
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation24
PCDH15protocadherin related 1510Rare Single Gene Mutation, Syndromic, Genetic Association211
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association, Functional211
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Syndromic, Genetic Association24
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association26
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association26
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association25
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association25
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association25
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association25
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association26
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association27
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association24
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association27
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association25
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association24
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association21
OTX1orthodenticle homeobox 12Genetic Association23
PCDHAC1Protocadherin alpha subfamily C, 15Rare Single Gene Mutation, Genetic Association25
PCDHAC2Protocadherin alpha subfamily C, 25Rare Single Gene Mutation, Genetic Association24
PCLOpiccolo presynaptic cytomatrix protein7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional211
PCM1pericentriolar material 18Rare Single Gene Mutation26
PDCD1programmed cell death 12Rare Single Gene Mutation24
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association23
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation26
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association29
PER2period circadian clock 22Rare Single Gene Mutation28
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association25
PHB1prohibitin 117Genetic Association21
PHF7PHD finger protein 73Rare Single Gene Mutation24
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation25
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Rare Single Gene Mutation, Genetic Association25
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association26
PLAURPlasminogen activator, urokinase receptor19Rare Single Gene Mutation, Genetic Association23
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation29
PLCD4phospholipase C delta 42Rare Single Gene Mutation25
PLNphospholamban6Rare Single Gene Mutation24
PLXNA3plexin A3XRare Single Gene Mutation, Syndromic28
PLXNA4Plexin A47Rare Single Gene Mutation, Functional26
PLXNB1plexin B13Rare Single Gene Mutation25
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation26
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation27
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation24
PON1paraoxonase 17Genetic Association25
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation23
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation25
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic2S10
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Rare Single Gene Mutation, Genetic Association22
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation28
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation, Genetic Association25
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional27
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional27
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta7Rare Single Gene Mutation, Syndromic27
PRKCAprotein kinase C alpha17Rare Single Gene Mutation, Functional26
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association28
PRKD2protein kinase D219Rare Single Gene Mutation24
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional29
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association, Functional219
PRODHProline dehydrogenase (oxidase) 122Rare Single Gene Mutation, Syndromic, Genetic Association2S8
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation23
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic212
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association27
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association, Functional28
PTCHD1-ASPTCHD1antisense RNA (head to head)XRare Single Gene Mutation23
PTGS2prostaglandin-endoperoxide synthase 21Rare Single Gene Mutation, Genetic Association, Functional28
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association26
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association211
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional211
PXDNperoxidasin2Rare Single Gene Mutation, Syndromic28
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation, Syndromic213
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation, Functional26
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation28
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation, Syndromic, Functional219
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation23
RANBP17RAN binding protein 175Rare Single Gene Mutation29
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation218
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association24
RBBP5RB binding protein 5, histone lysine methyltransferase complex subunit1Rare Single Gene Mutation, Functional25
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association243
RBM27RNA binding motif protein 275Rare Single Gene Mutation24
REEP3receptor accessory protein 310Rare Single Gene Mutation23
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation26
RHOXF1Rhox homeobox family, member 1XGenetic Association23
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation24
RIT2Ras-like without CAAX 218Genetic Association23
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association2S5
RNF25ring finger protein 252Rare Single Gene Mutation23
RNF38ring finger protein 389Rare Single Gene Mutation22
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional210
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic214
RP11-1407O15.217Rare Single Gene Mutation21
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation25
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic2S18
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation24
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation24
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation24
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association2S44
RPS10P2-AS1ribosomal protein S10 pseudogene 2 anti-sense 120Genetic Association, Functional24
SBF1SET binding factor 122Rare Single Gene Mutation211
SCAF1SR-related CTD associated factor 119Rare Single Gene Mutation24
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic2S6
SCFD2sec1 family domain containing 24Rare Single Gene Mutation24
SACSsacsin molecular chaperone13Rare Single Gene Mutation27
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation25
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation28
SCP2sterol carrier protein 21Rare Single Gene Mutation23
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association24
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Rare Single Gene Mutation, Genetic Association, Functional219
SETSETnuclear proto-oncogene9Rare Single Gene Mutation26
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S19
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation25
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic23
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association27
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation26
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation, Syndromic28
SH3RF3SH3 domain containing ring finger 32Rare Single Gene Mutation23
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association216
SERPINE1serpin family E member 17Genetic Association22
SHOXshort stature homeoboxX,YRare Single Gene Mutation23
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S6
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation, Functional29
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association214
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation26
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation24
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Syndromic, Genetic Association, Functional225
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation23
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation, Syndromic23
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation22
SLC35G1solute carrier family 35 member G110Rare Single Gene Mutation24
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation23
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association28
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Syndromic, Genetic Association, Functional216
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association, Functional231
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic, Functional225
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation, Functional26
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation26
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional217
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation26
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional210
SMAD4SMAD family member 418Rare Single Gene Mutation, Functional29
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic2S13
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation24
SMURF1SMAD specific E3 ubiquitin protein ligase 17Rare Single Gene Mutation22
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association210
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association210
SNTG2syntrophin gamma 22Rare Single Gene Mutation27
SNX5sorting nexin 520Rare Single Gene Mutation25
SOD1superoxide dismutase 121Rare Single Gene Mutation, Genetic Association, Functional23
SORCS3sortilin related VPS10 domain containing receptor 310Rare Single Gene Mutation, Syndromic, Genetic Association26
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional25
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation, Syndromic215
SPP2secreted phosphoprotein 22Rare Single Gene Mutation24
SPRY2sprouty RTK signaling antagonist 213Rare Single Gene Mutation, Functional23
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S11
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation26
SRRM2serine/arginine repetitive matrix 216Rare Single Gene Mutation, Syndromic2S13
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation26
SSRP1structure specific recognition protein 111Rare Single Gene Mutation23
ST7suppression of tumorigenicity 77Rare Single Gene Mutation24
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association, Functional212
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association27
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation27
STYK1Serine/threonine/tyrosine kinase 112Rare Single Gene Mutation, Genetic Association24
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation, Syndromic2S8
SYAP1Synapse associated protein 1XRare Single Gene Mutation22
SLC22A15Solute carrier family 22, member 151Genetic Association21
SLC25A27solute carrier family 25 member 276Genetic Association21
SLC35B1solute carrier family 35 member B117Genetic Association21
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association25
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional27
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation, Syndromic29
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association223
SYNJ1synaptojanin 121Rare Single Gene Mutation23
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association23
TAF4TATA-box binding protein associated factor 420Rare Single Gene Mutation, Syndromic2S5
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation27
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional28
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation27
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association210
TECTAtectorin alpha11Rare Single Gene Mutation29
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation21
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation, Functional28
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation, Functional27
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association25
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional25
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation24
TMEM39Btransmembrane protein 39B1Rare Single Gene Mutation25
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association, Functional210
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation, Syndromic217
TNRC6Ctrinucleotide repeat containing adaptor 6C17Rare Single Gene Mutation26
TOP2BDNA topoisomerase II beta3Rare Single Gene Mutation, Functional26
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional27
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic, Functional223
TRIM33Tripartite motif containing 331Rare Single Gene Mutation, Genetic Association22
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation, Functional26
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation26
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic, Functional2S14
SYT17synaptotagmin XVII16Genetic Association22
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association21
TDO2tryptophan 2,3-dioxygenase4Genetic Association24
TPOThyroid peroxidase2Genetic Association21
TSPAN17tetraspanin 175Rare Single Gene Mutation24
TSPAN4tetraspanin 411Rare Single Gene Mutation24
TSPAN7tetraspanin 7XRare Single Gene Mutation, Functional29
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation27
TTNtitin2Rare Single Gene Mutation, Syndromic2S31
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation26
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association22
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation, Syndromic26
UBN2ubinuclein 27Rare Single Gene Mutation25
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation211
UIMC1ubiquitin interaction motif containing 15Rare Single Gene Mutation26
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic2S10
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation, Functional29
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation212
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation, Functional210
USH2Ausherin1Rare Single Gene Mutation210
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation24
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation26
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic, Functional2S13
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association22
VIL1Villin 12Rare Single Gene Mutation24
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation23
WDFY4WDFY family member 410Rare Single Gene Mutation211
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation27
WNT1Wingless-type MMTV integration site family, member 112Rare Single Gene Mutation, Syndromic, Genetic Association26
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic213
XPO1exportin 12Rare Single Gene Mutation, Genetic Association28
YEATS2YEATS domain containing 23Rare Single Gene Mutation, Genetic Association24
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association27
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation25
VASH1vasohibin 114Genetic Association24
VDRvitamin D receptor12Genetic Association, Functional210
ZBTB16Zinc finger and BTB domain containing 1611Rare Single Gene Mutation, Genetic Association, Functional23
ZC3H11Azinc finger CCCH-type containing 11A1Rare Single Gene Mutation24
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation26
ZFYVE26zinc finger FYVE-type containing 2614Rare Single Gene Mutation27
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S11
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S10
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic214
ZNF18zinc finger protein 1817Rare Single Gene Mutation22
ZNF385BZinc finger protein 385B2Rare Single Gene Mutation, Genetic Association23
ZNF517Zinc finger protein 5178Rare Single Gene Mutation25
ZNF548zinc finger protein 54819Rare Single Gene Mutation24
ZNF559Zinc finger protein 55919Rare Single Gene Mutation29
ZNF626zinc finger protein 62619Rare Single Gene Mutation24
ZNF711zinc finger protein 711XRare Single Gene Mutation25
ZNF713Zinc finger protein 7137Rare Single Gene Mutation23
ZNF774Zinc finger protein 77415Rare Single Gene Mutation24
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association, Functional216
ZNF827Zinc finger protein 8274Rare Single Gene Mutation, Genetic Association23
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation25

3 Category 3   [131 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABL2ABL proto-oncogene 2, non-receptor tyrosine kinase1Rare Single Gene Mutation, Functional310
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, Syndromic3S5
AGAP5ArfGAP with GTPase domain, ankyrin repeat and PH domain 510Rare Single Gene Mutation32
ALDH1L1aldehyde dehydrogenase 1 family member L13Rare Single Gene Mutation37
ARHGEF2Rho/Rac guanine nucleotide exchange factor 21Rare Single Gene Mutation, Syndromic37
ATP2B1ATPase plasma membrane Ca2+ transporting 112Rare Single Gene Mutation, Syndromic3S2
BACE1beta-secretase 111Rare Single Gene Mutation, Functional34
BAIAP2L1BAR/IMD domain containing adaptor protein 2 like 17Rare Single Gene Mutation36
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional33
BCL11BBCL11 transcription factor B14Rare Single Gene Mutation, Syndromic34
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation33
CATcatalase11Rare Single Gene Mutation, Functional34
CBX1chromobox 117Rare Single Gene Mutation, Syndromic3S3
CDH2cadherin 218Rare Single Gene Mutation, Syndromic3S8
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDK5RAP2CDK5 regulatory subunit associated protein 29Rare Single Gene Mutation, Syndromic314
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation34
CERT1ceramide transporter 15Rare Single Gene Mutation, Syndromic3S7
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation38
CHMCHMRab escort proteinXRare Single Gene Mutation37
CHST2carbohydrate sulfotransferase 23Rare Single Gene Mutation33
CLIP2CAP-Gly domain containing linker protein 27Genetic Association31
CSMD3CUB and Sushi multiple domains 38Rare Single Gene Mutation, Functional310
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
DGKIdiacylglycerol kinase iota7Rare Single Gene Mutation, Genetic Association34
DHX9DExH-box helicase 91Rare Single Gene Mutation, Syndromic3S5
DNM1dynamin 19Rare Single Gene Mutation39
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional34
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation35
EPHB1EPH receptor B13Rare Single Gene Mutation310
FABP4fatty acid binding protein 48Rare Single Gene Mutation33
EIF5Aeukaryotic translation initiation factor 5A17Rare Single Gene Mutation, Syndromic34
FBXL13F-box and leucine rich repeat protein 137Rare Single Gene Mutation32
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation32
FLNAfilamin AXRare Single Gene Mutation, Functional39
FXNfrataxin9Rare Single Gene Mutation32
GABRG2gamma-aminobutyric acid type A receptor subunit gamma 25Rare Single Gene Mutation, Genetic Association39
GPC5glypican 513Rare Single Gene Mutation39
GRB10growth factor receptor bound protein 107Rare Single Gene Mutation, Functional311
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic312
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene Mutation, Genetic Association314
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
IKZF1IKAROS family zinc finger 17Rare Single Gene Mutation36
ITGA8integrin subunit alpha 810Rare Single Gene Mutation37
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic38
KCNA2potassium voltage-gated channel subfamily A member 21Rare Single Gene Mutation311
KCNC2potassium voltage-gated channel subfamily C member 212Rare Single Gene Mutation312
KCNH5potassium voltage-gated channel subfamily H member 514Rare Single Gene Mutation35
KDM2Alysine demethylase 2A11Rare Single Gene Mutation38
KDM3Alysine demethylase 3A2Rare Single Gene Mutation34
KCNA3potassium voltage-gated channel subfamily A member 31Rare Single Gene Mutation32
KIZkizuna centrosomal protein20Genetic Association, Functional32
KLF7Kruppel like factor 72Rare Single Gene Mutation, Functional314
KNG1kininogen 13Rare Single Gene Mutation32
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation33
LMTK3lemur tyrosine kinase 319Rare Single Gene Mutation, Functional36
MACF1microtubule actin crosslinking factor 11Rare Single Gene Mutation, Syndromic, Functional3S9
MAP4K1mitogen-activated protein kinase kinase kinase kinase 119Rare Single Gene Mutation35
MAPK8IP1mitogen-activated protein kinase 8 interacting protein 111Rare Single Gene Mutation34
MAPTmicrotubule associated protein tau17Rare Single Gene Mutation, Genetic Association, Functional34
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional37
MINK1misshapen like kinase 117Rare Single Gene Mutation38
MSL2MSL complex subunit 23Rare Single Gene Mutation35
MSRAmethionine sulfoxide reductase A8Rare Single Gene Mutation, Genetic Association, Functional313
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MYLKmyosin light chain kinase3Rare Single Gene Mutation34
MYOCDmyocardin17Rare Single Gene Mutation33
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunitXRare Single Gene Mutation, Syndromic3S13
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
NPFFR2neuropeptide FF receptor 24Rare Single Gene Mutation37
NKX2-2NK2 homeobox 220Genetic Association, Functional32
NXF1nuclear RNA export factor 111Rare Single Gene Mutation32
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic3S6
PCpyruvate carboxylase11Rare Single Gene Mutation38
PDE3Bphosphodiesterase 3B11Rare Single Gene Mutation38
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation32
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic36
PHLPP1PH domain and leucine rich repeat protein phosphatase 118Rare Single Gene Mutation35
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic38
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
PLEKHA8pleckstrin homology domain containing A87Rare Single Gene Mutation32
PLPPR4phospholipid phosphatase related 41Rare Single Gene Mutation, Functional37
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S11
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S11
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S12
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S9
PRR25proline rich 2516Rare Single Gene Mutation32
PTDSS1phosphatidylserine synthase 18Rare Single Gene Mutation, Syndromic36
PRPF19pre-mRNA processing factor 1911Rare Single Gene Mutation33
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S4
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S6
RPH3Arabphilin 3A12Rare Single Gene Mutation, Functional37
SCGNsecretagogin, EF-hand calcium binding protein6Rare Single Gene Mutation, Functional34
SENP1SUMO specific peptidase 112Rare Single Gene Mutation33
SH3RF1SH3 domain containing ring finger 14Rare Single Gene Mutation, Functional35
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, Functional310
SLC23A1solute carrier family 23 member 15Rare Single Gene Mutation35
SLFN5schlafen family member 517Rare Single Gene Mutation34
SNCAIPsynuclein alpha interacting protein5Rare Single Gene Mutation33
SRSF1serine and arginine rich splicing factor 117Rare Single Gene Mutation, Syndromic3S4
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation33
SYPsynaptophysinXRare Single Gene Mutation34
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S2
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TGM1transglutaminase 114Rare Single Gene Mutation33
TMEM134transmembrane protein 13411Rare Single Gene Mutation33
TNPO3transportin 37Rare Single Gene Mutation38
TNS2tensin 212Rare Single Gene Mutation34
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic34
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional35
TRIM8tripartite motif containing 810Rare Single Gene Mutation, Syndromic3S5
TRPC5transient receptor potential cation channel subfamily C member 5XRare Single Gene Mutation37
TRPM6transient receptor potential cation channel subfamily M member 69Rare Single Gene Mutation36
U2AF2U2 small nuclear RNA auxiliary factor 219Rare Single Gene Mutation, Syndromic37
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation35
USP30ubiquitin specific peptidase 3012Rare Single Gene Mutation33
VPS54VPS54subunit of GARP complex2Rare Single Gene Mutation33
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation33
WWP1WW domain containing E3 ubiquitin protein ligase 18Rare Single Gene Mutation32
XRCC6X-ray repair cross complementing 622Rare Single Gene Mutation32
VCPvalosin containing protein9Rare Single Gene Mutation, Functional34
WDR37WD repeat domain 3710Rare Single Gene Mutation, Syndromic36
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S12
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional316
ZBTB47zinc finger and BTB domain containing 473Rare Single Gene Mutation31