Gene Scoring 958 total scored genes, 131 uncategorized

Database updated on June 20, 2019

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 – Criteria page.

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S Category S   [89 genes]

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S34
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S11
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S41
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S9
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S38
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S20
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional4S13
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic4S3
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S7
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic4S7
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S4
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S31
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S42
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic4S4
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic2S5
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S64
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic4S7
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S15
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S16
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association3S12
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S38
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S21
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S16
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic4S5
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S44
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional4S10
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional4S12
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional4S22
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic2S5
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S12
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic4S7
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S20
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S15
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S15
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S31
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S3
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S75
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S27
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S33
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional3S15
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S10
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S4
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional4S17
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S11
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic4S4
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic3S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S25
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic4S6
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S13
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S55
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S14
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic3S21
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic4S6
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association4S6
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association4S3
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association4S26
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S53
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic4S6
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S23
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic4S7
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S20
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional2S10
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic4S8
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional3S36
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S50
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic2S10
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S42
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic4S12
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S15
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association3S29
TTNtitin2Rare Single Gene Mutation, Syndromic4S18
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S27
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic4S3
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic4S8
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S17
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S21
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S8

1 Category 1   [25 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S34
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S38
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic113
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S20
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S31
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S42
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association117
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association18
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S38
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association148
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation19
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S20
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic110
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association116
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S25
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S55
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional150
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic157
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S23
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S50
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association124
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S15

2 Category 2   [66 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S41
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation23
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional218
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation223
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation26
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S5
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic2S5
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association221
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S64
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation25
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S15
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S16
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S44
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association237
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation27
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation25
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic2S5
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional212
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic26
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S15
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association219
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S15
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S3
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S75
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S27
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional237
NCKAP1NCK-associated protein 12Rare Single Gene Mutation27
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional26
NLGN3neuroligin 3XRare Single Gene Mutation232
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association278
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional212
PHF3PHD finger protein 36Rare Single Gene Mutation22
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
RANBP17RAN binding protein 175Rare Single Gene Mutation25
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association26
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional232
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S20
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional2S10
SPASTSpastin2Rare Single Gene Mutation29
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic218
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic2S10
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation27
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic222
UBN2ubinuclein 27Rare Single Gene Mutation23
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S17
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional214

3 Category 3   [202 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation34
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association36
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation34
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation37
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S11
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation34
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association325
ANXA1Annexin A19Rare Single Gene Mutation32
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional33
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation32
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation32
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation33
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic36
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association313
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional38
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association39
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association334
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association321
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation35
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation39
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association34
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional311
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation37
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional39
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic36
CGNL1Cingulin-like 115Rare Single Gene Mutation33
CASZ1castor zinc finger 11Rare Single Gene Mutation34
CCNG1cyclin G15Rare Single Gene Mutation31
CDH13cadherin 1316Rare Single Gene Mutation32
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic35
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation313
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S4
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association37
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association313
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional311
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional313
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic320
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic37
CUL7Cullin 76Rare Single Gene Mutation34
CPEB4cytoplasmic polyadenylation element binding protein 45Functional31
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional316
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
DENRdensity-regulated protein12Rare Single Gene Mutation33
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation35
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association334
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional37
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association3S12
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation38
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation311
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association312
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic313
DLX3distal-less homeobox 317Rare Single Gene Mutation32
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S21
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation33
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association36
EP400E1A binding protein p40012Rare Single Gene Mutation36
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional33
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation33
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation33
FBN1Fibrillin 115Rare Single Gene Mutation310
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association341
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation32
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation35
GPC4glypican 4XRare Single Gene Mutation32
GPHNGephyrin14Rare Single Gene Mutation38
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association36
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association318
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation38
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional315
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association338
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association39
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation31
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation34
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic37
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association35
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
ICA1islet cell autoantigen 17Rare Single Gene Mutation38
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association314
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association311
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S12
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association311
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association320
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association37
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional322
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation38
KIAA1586KIAA15866Rare Single Gene Mutation33
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation315
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation33
KDM4Clysine demethylase 4C9Rare Single Gene Mutation31
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic34
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association37
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association36
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association31
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic39
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S31
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation36
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional3S15
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association34
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional310
MYO9BMyosin IXB19Rare Single Gene Mutation34
NAV2neuron navigator 211Rare Single Gene Mutation39
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic319
NINLNinein-like20Rare Single Gene Mutation34
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association317
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association330
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation34
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association317
MYH10myosin heavy chain 1017Rare Single Gene Mutation35
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation33
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional36
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic314
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation32
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional34
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional344
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic33
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association37
NUDCD2NudC domain containing 25Rare Single Gene Mutation32
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation34
PAX5Paired box 59Rare Single Gene Mutation35
PER2period circadian clock 22Rare Single Gene Mutation32
PHF2PHD finger protein 29Rare Single Gene Mutation35
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic3S10
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation34
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLXNA4Plexin A47Rare Single Gene Mutation, Functional34
PLXNB1plexin B13Rare Single Gene Mutation33
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Genetic Association31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional33
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association36
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association315
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation34
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation38
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation32
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic3S21
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association333
RBM27RNA binding motif protein 275Rare Single Gene Mutation33
PHBprohibitin17Genetic Association31
PON1paraoxonase 17Genetic Association35
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation33
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional38
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation33
SBF1SET binding factor 122Rare Single Gene Mutation38
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S53
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic333
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, Functional316
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic312
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic310
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association36
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation35
SLC35B1solute carrier family 35 member B117Genetic Association31
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association, Functional315
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional32
SMAD4SMAD family member 418Rare Single Gene Mutation34
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic36
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional3S36
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation36
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation32
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation36
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation33
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional39
SNX5sorting nexin 520Rare Single Gene Mutation33
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation36
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association38
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S42
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation33
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation34
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic313
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation32
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation33
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association3S29
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S27
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation36
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation33
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
VIL1Villin 12Rare Single Gene Mutation31
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic38
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S21
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation33
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic310
WDFY4WDFY family member 410Rare Single Gene Mutation35
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association313

4 Category 4   [463 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional45
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation42
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association42
ADCY5Adenylate cyclase 53Rare Single Gene Mutation46
ADKadenosine kinase10Rare Single Gene Mutation42
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional42
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic415
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation48
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation43
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association45
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation43
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation47
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional47
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation44
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional43
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S9
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ACTN4actinin alpha 419Rare Single Gene Mutation44
ADORA2Aadenosine A2a receptor22Genetic Association47
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation44
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation41
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation42
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association49
ARandrogen receptorXGenetic Association46
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional4S13
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation42
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic417
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation42
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic43
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation48
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation44
BICDL1BICD family like cargo adaptor 112Genetic Association42
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic4S3
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation42
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic44
BST1bone marrow stromal cell antigen 14Genetic Association, Functional45
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation42
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional46
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association47
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association49
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association419
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association46
CADM1cell adhesion molecule 111Rare Single Gene Mutation49
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S7
CAPN12Calpain 1219Rare Single Gene Mutation45
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation41
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic412
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation46
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation43
CD276CD276molecule15Rare Single Gene Mutation41
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional48
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association49
CDH11cadherin 1116Rare Single Gene Mutation44
CDH8cadherin 8, type 216Rare Single Gene Mutation49
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association47
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation42
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association42
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic4S7
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S4
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation43
CADM2Cell adhesion molecule 23Genetic Association43
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CD99L2CD99 molecule like 2XGenetic Association41
CDH22cadherin-like 2220Genetic Association44
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic4S4
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association46
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation41
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation45
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association46
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation42
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association411
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation42
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation42
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association413
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional45
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association414
CADPScalcium dependent secretion activator3Genetic Association42
CNTN3contactin 33Rare Single Gene Mutation45
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional44
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic4S7
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional43
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation43
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional44
DDCdopa decarboxylase7Genetic Association42
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation43
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX6distal-less homeobox 67Rare Single Gene Mutation49
DMXL2Dmx-like 215Rare Single Gene Mutation46
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation45
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation44
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation43
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation42
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association48
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association46
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association412
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation42
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association46
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
DSTDystonin6Rare Single Gene Mutation46
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association43
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC1DPY30 domain containing 11041
DYDC2DPY30 domain containing 21041
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional410
DLX2distal-less homeobox 22Genetic Association411
DRD1Dopamine receptor D15Genetic Association, Functional44
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation43
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association412
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional45
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional423
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S16
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
EPHB2EPH receptor B21Rare Single Gene Mutation44
EPPK1epiplakin 18Rare Single Gene Mutation43
ERGERG, ETS transcription factor21Genetic Association41
ERMNermin2Rare Single Gene Mutation41
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association48
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation43
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association46
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation41
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation41
FAT1FAT atypical cadherin 14Rare Single Gene Mutation44
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FCRL6Fc receptor like 61Rare Single Gene Mutation44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
FGAFibrinogen alpha chain4Genetic Association41
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association412
ELOVL2ELOVL fatty acid elongase 26Genetic Association41
EXOC3exocyst complex component 35Rare Single Gene Mutation41
EXOC5exocyst complex component 514Rare Single Gene Mutation42
EXOC6exocyst complex component 610Rare Single Gene Mutation41
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic4S5
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional4S10
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association46
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation44
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association44
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association42
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association42
GLO1glyoxalase I6Genetic Association49
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation, Functional414
GNASGNAS complex locus20Rare Single Gene Mutation48
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association42
GPC6glypican 613Rare Single Gene Mutation, Genetic Association48
GPR37G protein-coupled receptor 377Rare Single Gene Mutation42
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association44
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association49
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional43
GAS2Growth arrest-specific 211Genetic Association41
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association44
GPX1glutathione peroxidase 13Genetic Association45
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation43
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association45
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation, Genetic Association, Functional46
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association413
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association45
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association42
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation44
HLA-Amajor histocompatibility complex, class I, A6Genetic Association410
HLA-BMajor histocompatibility complex, class I, B6Genetic Association45
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association44
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation45
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional4S12
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association411
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association47
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association46
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional47
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association45
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association43
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association411
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation422
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association42
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association413
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation43
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional4S22
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation49
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation48
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation48
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional42
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association46
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association48
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation41
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation418
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation46
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
KIF13BKinesin family member 13B8Rare Single Gene Mutation43
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic4S7
KLF16Kruppel like factor 1619Rare Single Gene Mutation41
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation44
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation42
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
KRT26keratin 2617Rare Single Gene Mutation42
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association45
LEPLeptin7Rare Single Gene Mutation41
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation42
LIN7Blin-7 homolog B, crumbs cell polarity complex component1941
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation45
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional44
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association46
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association411
LRRC1leucine rich repeat containing 16Genetic Association45
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional415
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional44
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association410
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation47
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation44
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation46
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation41
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation42
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation42
MCPH1microcephalin 18Rare Single Gene Mutation415
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S33
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association45
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation44
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation45
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional43
MAOBmonoamine oxidase BXRare Single Gene Mutation, Genetic Association, Functional45
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association410
MPP6membrane palmitoylated protein 67Rare Single Gene Mutation43
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation41
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation43
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association416
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation42
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation45
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation43
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association47
MYO1Emyosin IE15Rare Single Gene Mutation43
MYO5Cmyosin VC15Rare Single Gene Mutation42
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S4
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional4S17
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NEO1Neogenin 11541
NFIAnuclear factor I/A1Rare Single Gene Mutation410
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation45
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation42
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional48
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation43
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S11
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation46
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association48
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association410
MNTMAX network transcriptional repressor17Genetic Association41
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Genetic Association41
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional46
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic4S4
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NOTCH2NLnotch 2 N-terminal like1Functional41
NPAS2neuronal PAS domain protein 22Genetic Association44
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic48
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association413
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Functional43
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
NXPH1neurexophilin 17Rare Single Gene Mutation45
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation42
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation43
OTX1Orthodenticle homeobox 12Genetic Association43
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation43
PBX1PBX homeobox 11Rare Single Gene Mutation44
PCDH10protocadherin 104Rare Single Gene Mutation48
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation42
PCDH15protocadherin related 1510Rare Single Gene Mutation, Genetic Association44
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association47
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association43
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association44
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association44
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association43
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association44
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association44
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation42
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association43
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association44
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association45
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association43
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association43
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association44
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association44
PDCD1programmed cell death 12Rare Single Gene Mutation43
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association46
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLNphospholamban6Rare Single Gene Mutation44
PLXNA3plexin A3XRare Single Gene Mutation42
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation43
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation42
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation42
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation41
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic4S6
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation45
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S13
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional45
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation43
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic46
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association45
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association44
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S14
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association43
QRICH1glutamine rich 13Rare Single Gene Mutation43
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation44
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation410
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation42
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association43
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation44
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association43
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic4S6
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation416
REEP3receptor accessory protein 310Rare Single Gene Mutation43
PCDHAC1Protocadherin alpha subfamily C, 15Genetic Association42
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association43
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PLAURPlasminogen activator, urokinase receptor19Genetic Association41
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation43
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PRKCAprotein kinase C alpha17Rare Single Gene Mutation44
PTGS2prostaglandin-endoperoxide synthase 21Genetic Association, Functional46
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association48
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional49
PXDNperoxidasin2Rare Single Gene Mutation44
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association42
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association4S6
RFX3regulatory factor X39Rare Single Gene Mutation45
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RIT2Ras-like without CAAX 218Genetic Association43
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association4S3
RNF38ring finger protein 389Rare Single Gene Mutation42
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic413
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation44
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association4S26
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
RP11-1407O15.217Rare Single Gene Mutation41
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation42
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation42
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation44
SCP2sterol carrier protein 21Rare Single Gene Mutation42
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association44
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic4S6
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation43
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association46
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation44
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic4S7
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation44
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation43
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional420
SLC25A27solute carrier family 25 member 276Genetic Association41
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation43
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation41
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation41
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association46
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association426
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic412
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation42
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional412
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation42
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic4S8
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation42
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association46
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SNTG2syntrophin gamma 22Rare Single Gene Mutation45
SOD1superoxide dismutase 121Genetic Association, Functional42
SPP2secreted phosphoprotein 22Rare Single Gene Mutation44
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation44
SSPOSCO-spondin7Rare Single Gene Mutation43
SSRP1structure specific recognition protein 111Rare Single Gene Mutation42
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association46
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SYAP1Synapse associated protein 1XRare Single Gene Mutation42
SYN1Synapsin 1XRare Single Gene Mutation, Functional418
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional46
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
SYNJ1synaptojanin 121Rare Single Gene Mutation41
SYT17synaptotagmin XVII16Genetic Association42
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association42
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association47
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
SERPINE1serpin family E member 17Genetic Association42
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation46
TBX1T-box 122Syndromic, Functional45
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
TECTAtectorin alpha11Rare Single Gene Mutation46
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation41
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association43
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic4S12
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation43
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional46
TPOThyroid peroxidase2Genetic Association41
TRIM33Tripartite motif containing 331Genetic Association41
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional43
TSPAN17tetraspanin 175Rare Single Gene Mutation43
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TTC25tetratricopeptide repeat domain 2517Genetic Association41
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation45
TTNtitin2Rare Single Gene Mutation, Syndromic4S18
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation44
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association42
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation45
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional43
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic4S3
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic4S8
USH2Ausherin1Rare Single Gene Mutation43
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association42
VASH1vasohibin 114Genetic Association44
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
WNT1Wingless-type MMTV integration site family, member 112Genetic Association43
XPO1Exportin 1 (CRM1 homolog, yeast)2Rare Single Gene Mutation, Genetic Association45
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association45
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation45
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association41
ZNF18zinc finger protein 1817Rare Single Gene Mutation41
ZNF292zinc finger protein 2926Rare Single Gene Mutation44
ZNF385BZinc finger protein 385B2Genetic Association42
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S8
ZNF517Zinc finger protein 5178Rare Single Gene Mutation42
ZNF548zinc finger protein 54819Rare Single Gene Mutation42
ZNF559Zinc finger protein 55919Rare Single Gene Mutation43
ZNF626zinc finger protein 62619Rare Single Gene Mutation42
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
ZNF774Zinc finger protein 77415Rare Single Gene Mutation42
VDRvitamin D receptor12Genetic Association, Functional47
YEATS2YEATS domain containing 23Genetic Association41
ZNF827Zinc finger protein 8274Genetic Association41
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation43

5 Category 5   [177 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADARB1Adenosine deaminase, RNA-specific, B121Rare Single Gene Mutation, Functional52
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 1816Rare Single Gene Mutation, Syndromic54
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
AMBRA1autophagy and beclin 1 regulator 111Functional53
APPAmyloid beta (A4) precursor protein21Functional53
ASS1argininosuccinate synthetase9Functional53
ATG7Autophagy related 73Functional53
ATP8A1ATPase phospholipid transporting 8A14Rare Single Gene Mutation, Functional52
ATRNL1Attractin-like 110Rare Single Gene Mutation52
ATXN7Ataxin 73Rare Single Gene Mutation51
AVPArginine vasopressin20Genetic Association, Functional54
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
BDNFBrain-derived neurotrophic factor11Rare Single Gene Mutation, Functional511
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
CAMSAP2calmodulin regulated spectrin-associated protein family, member 21Rare Single Gene Mutation51
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation58
CD44CD44 molecule (Indian blood group)11Rare Single Gene Mutation, Functional54
CDKN1Bcyclin dependent kinase inhibitor 1B1251
CHD5chromodomain helicase DNA binding protein 51Rare Single Gene Mutation, Functional54
CBLN1cerebellin 1 precursor16Genetic Association, Functional56
CLSTN2calsyntenin 23Rare Single Gene Mutation, Functional54
CLSTN3Calsyntenin 312Rare Single Gene Mutation, Functional53
CNR2Cannabinoid receptor 2 (macrophage)1Rare Single Gene Mutation, Genetic Association, Functional54
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association524
CRHR2corticotropin releasing hormone receptor 27Functional53
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
DAB1disabled homolog 1 (Drosophila)1Rare Single Gene Mutation, Functional57
DAPK1death-associated protein kinase 19Rare Single Gene Mutation, Genetic Association, Functional55
DCTN5dynactin 516Rare Single Gene Mutation53
DCUN1D1DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)3Functional53
DDX11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1112Functional53
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation, Genetic Association511
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional510
DNM1LDynamin 1-like12Rare Single Gene Mutation, Functional53
DOCK10Dedicator of cytokinesis 102Rare Single Gene Mutation51
DGKKdiacylglycerol kinase kappaXFunctional51
DGKZdiacylglycerol kinase zeta11Rare Single Gene Mutation52
DLX1distal-less homeobox 12Genetic Association58
DNAJC19DnaJ heat shock protein family (Hsp40) member C193Functional51
DVL1Dishevelled segment polarity protein 11Functional53
EGR2early growth response 2 (Krox-20 homolog, Drosophila)10Functional54
EIF4EBP2Eukaryotic translation initiation factor 4E binding protein 210Functional51
EML1echinoderm microtubule associated protein like 114Rare Single Gene Mutation52
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB6EPH receptor B67Rare Single Gene Mutation55
EPS8epidermal growth factor receptor pathway substrate 812Functional51
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation515
ESR1estrogen receptor 16Syndromic, Genetic Association510
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional56
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional52
FAM19A2family with sequence similarity 19 member A2, C-C motif chemokine like12Functional51
FAM19A3family with sequence similarity 19 member A3, C-C motif chemokine like1Functional52
FGD1FYVE, RhoGEF and PH domain containing 1XRare Single Gene Mutation, Syndromic53
FGFBP3fibroblast growth factor binding protein 310Rare Single Gene Mutation51
FLT1fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)13Rare Single Gene Mutation, Functional54
DLGAP4DLG associated protein 420Functional52
FGFR2fibroblast growth factor receptor 210Functional51
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional57
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Rare Single Gene Mutation, Genetic Association, Functional59
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association56
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Rare Single Gene Mutation, Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Rare Single Gene Mutation, Functional54
GANGigaxonin16Rare Single Gene Mutation51
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
FOLH1folate hydrolase 111Functional52
GAP43Growth associated protein 433Functional51
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association58
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
GRM4Glutamate receptor, metabotropic 46Functional51
H2AFZH2A histone family member Z4Genetic Association, Functional53
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional56
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
HDAC6histone deacetylase 6XRare Single Gene Mutation56
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL17RAinterleukin 17 receptor A22Rare Single Gene Mutation, Functional53
IL6interleukin 67Functional56
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
JAKMIP1Janus kinase and microtubule interacting protein 14Rare Single Gene Mutation, Functional58
KCNJ2Potassium inwardly-rectifying channel, subfamily J, member 217Rare Single Gene Mutation, Genetic Association53
KCNT1potassium sodium-activated channel subfamily T member 19Rare Single Gene Mutation, Syndromic511
KIF21Bkinesin family member 21B1Rare Single Gene Mutation, Functional54
KLC2Kinesin light chain 211Rare Single Gene Mutation52
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KITKIT proto-oncogene receptor tyrosine kinase4Syndromic51
LAMC3laminin, gamma 39Rare Single Gene Mutation59
LATlinker for activation of T-cells16Functional52
MAGED1MAGE family member D1XFunctional51
MALmal, T-cell differentiation protein2Functional52
MAP2microtubule-associated protein 22Rare Single Gene Mutation, Functional55
MAPK1Mitogen-activated protein kinase 122Rare Single Gene Mutation, Functional52
MAPK8IP2Mitogen-activated protein kinase 8 interacting protein 222Functional51
KMOkynurenine 3-monooxygenase1Functional51
LRPPRCleucine rich pentatricopeptide repeat containing2Rare Single Gene Mutation, Functional53
MC4RMelanocortin 4 receptor18Functional54
MCCMCC, WNT signaling pathway regulator5Rare Single Gene Mutation, Functional55
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
MYO1Amyosin IA12Rare Single Gene Mutation57
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NEFLNeurofilament, light polypeptide8Rare Single Gene Mutation, Genetic Association52
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2nitric oxide synthase 217Rare Single Gene Mutation, Genetic Association57
MSNMoesinXFunctional51
MTX2Metaxin 22Functional51
MYOZ1myozenin 110Rare Single Gene Mutation51
NR1H2nuclear receptor subfamily 1 group H member 219Functional51
NRG1Neuregulin 18Functional54
OPRM1opioid receptor, mu 16Functional54
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
OGTO-linked N-acetylglucosamine (GlcNAc) transferaseXRare Single Gene Mutation, Functional54
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Genetic Association, Functional55
PDZD4PDZ domain containing 4XRare Single Gene Mutation54
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional53
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
PTGER3prostaglandin E receptor 31Rare Single Gene Mutation51
RAC1Rac family small GTPase 17Syndromic, Functional55
PDE4Aphosphodiesterase 4A19Rare Single Gene Mutation, Functional52
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation55
RBM8ARNA binding motif protein 8A1Rare Single Gene Mutation, Functional55
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation53
PVALBParvalbumin22Functional52
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation, Genetic Association59
PLPPR4phospholipid phosphatase related 41Functional53
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation, Functional511
RASD1ras related dexamethasone induced 117Functional51
RPP25ribonuclease P and MRP subunit p2515Functional51
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
SLC16A7Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)12Rare Single Gene Mutation51
SLC25A14Solute carrier family 25 (mitochondrial carrier, brain), member 14XFunctional51
SLC25A24Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 241Rare Single Gene Mutation, Functional52
SLC30A3solute carrier family 30 member 32Functional52
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SLC33A1solute carrier family 33 member 13Functional54
SLC35A3solute carrier family 35 member A31Rare Single Gene Mutation52
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
SRRM4Serine/arginine repetitive matrix 412Rare Single Gene Mutation, Functional55
STAT1signal transducer and activator of transcription 12Rare Single Gene Mutation, Functional52
SYN3Synapsin III22Rare Single Gene Mutation, Functional52
SEMA3Fsemaphorin 3F3Functional51
SH3RF2SH3 domain containing ring finger 25Functional51
SLC22A3solute carrier family 22 member 36Functional53
TBC1D7TBC1 domain family member 76Rare Single Gene Mutation, Functional54
TERTtelomerase reverse transcriptase5Rare Single Gene Mutation, Functional52
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional57
TSNtranslin2Functional53
TYRtyrosinase11Rare Single Gene Mutation, Functional53
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic, Functional56
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UCN3urocortin 310Functional51
UPB1beta-ureidopropionase 122Rare Single Gene Mutation51
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation56
THtyrosine hydroxylase11Rare Single Gene Mutation, Genetic Association, Functional518
VLDLRVery low density lipoprotein receptor9Functional53
VRK3vaccinia related kinase 319Functional51
WDR93WD repeat domain 9315Rare Single Gene Mutation51
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
VIPvasoactive intestinal peptide6Rare Single Gene Mutation, Functional56

6 Category 6   [25 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
AFF4AF4/FMR2 family, member 45Rare Single Gene Mutation, Syndromic67
ARHGAP15Rho GTPase activating protein 152Rare Single Gene Mutation67
BCL2B-cell CLL/lymphoma 218Functional610
CBScystathionine beta-synthase21Rare Single Gene Mutation, Syndromic, Functional67
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CSNK1Dcasein kinase 1, delta17Rare Single Gene Mutation61
DCXdoublecortinXRare Single Gene Mutation, Syndromic69
DUSP22dual specificity phosphatase 226Rare Single Gene Mutation61
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation, Genetic Association, Functional67
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
GRM8glutamate receptor, metabotropic 87Rare Single Gene Mutation, Genetic Association67
GSNgelsolin9Rare Single Gene Mutation61
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation, Genetic Association65
MED12mediator complex subunit 12XRare Single Gene Mutation, Syndromic, Genetic Association620
PCDH8protocadherin 813Rare Single Gene Mutation61
RAB19RAB19, member RAS oncogene family7Rare Single Gene Mutation62
SLC16A3solute carrier family 16, member 3 (monocarboxylic acid transporter 4)17Rare Single Gene Mutation62
SUCLG2succinate-CoA ligase, GDP-forming, beta subunit3Rare Single Gene Mutation64
TAF1LTAF1 RNA polymerase II9Rare Single Gene Mutation63
SYT3synaptotagmin 319Rare Single Gene Mutation61
TGM3transglutaminase 320Rare Single Gene Mutation65
TPH2tryptophan hydroxylase 212Rare Single Gene Mutation, Genetic Association612
UBL7ubiquitin-like 7 (bone marrow stromal cell-derived)15Rare Single Gene Mutation61
XIRP1xin actin-binding repeat containing 13Rare Single Gene Mutation67
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
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