Gene Scoring 670 total scored genes, 213 uncategorized

Database updated on June 22, 2017

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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Score Distribution   Click on a score to refine results

S Category S   [97 genes]

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S18
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS18
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, SyndromicS9
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S27
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S23
ARXaristaless related homeoboxXRare Single Gene Mutation, SyndromicS12
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, SyndromicS28
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic AssociationS37
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, SyndromicS17
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S22
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S54
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S28
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S16
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, SyndromicS12
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS34
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, SyndromicS7
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS39
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic AssociationS11
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, SyndromicS7
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationS6
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS15
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S25
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S58
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S24
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic AssociationS21
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, SyndromicS6
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, SyndromicS9
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
PCDH19protocadherin 19XRare Single Gene Mutation, SyndromicS17
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S20
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S41
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS4
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S15
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic AssociationS38
RAI1retinoic acid induced 117Rare Single Gene Mutation, SyndromicS15
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S56
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, FunctionalS11
SOX5SRY (sex determining region Y)-box 512Rare Single Gene MutationS8
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S34
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
TSC1tuberous sclerosis 19Rare Single Gene Mutation, SyndromicS16
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic AssociationS23
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S23
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, SyndromicS10
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, SyndromicS16
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, SyndromicS5
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S8
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS8
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S6
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, FunctionalS8
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S11
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, SyndromicS7
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS3
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation3S4
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase) 15SyndromicS2
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene MutationS5
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S13
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic2S11
PACS1phosphofurin acidic cluster sorting protein 111SyndromicS3
PIK3R2Phosphoinositide-3-kinase, regulatory subunit 2 (beta)19Rare Single Gene Mutation, SyndromicS3
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S7
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS4
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S6
OCRLoculocerebrorenal syndrome of LoweXSyndromicS4
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS6
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S6
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic AssociationS28
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicS4
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalS6
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic AssociationS9
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS4
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS3
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S9
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S15
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S18
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S15
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
CNKSR2connector enhancer of kinase suppressor of Ras 2X3S1
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation4S2
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicS1
STAG1stromal antigen 13SyndromicS1
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicS7

1 Category 1   [23 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S18
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S23
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S22
CUL3Cullin 32Rare Single Gene Mutation112
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S28
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association134
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation16
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S20
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S41
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional140
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic140
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S56
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S34
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association116
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation18
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S8
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation19
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation15
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation14
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association112
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S15

2 Category 2   [42 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S27
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation220
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S54
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association217
FOXP1forkhead box P13Rare Single Gene Mutation, Functional224
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association234
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S58
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional233
NLGN3neuroligin 3XRare Single Gene Mutation231
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association266
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Functional221
SPASTSpastin2Rare Single Gene Mutation27
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S11
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation24
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation24
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation26
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
ILF2Interleukin enhancer binding factor 2 1Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IRF2BPLInterferon regulatory factor 2 binding protein-like 14Rare Single Gene Mutation23
KAT2BK(lysine) acetyltransferase 2B 3Rare Single Gene Mutation25
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation24
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic2S11
KMT2CLysine (K)-specific methyltransferase 2C 7Rare Single Gene Mutation28
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic213
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S7
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
NCKAP1NCK-associated protein 12Rare Single Gene Mutation26
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation210
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation25
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation23
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S9
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional29
USP7Ubiquitin specific peptidase 7 (herpes virus-associated) 16Rare Single Gene Mutation, Syndromic25
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S18
MSNP1ASMoesin pseudogene 1, antisense5Genetic Association, Functional210
RANBP17RAN binding protein 175Rare Single Gene Mutation23
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation24

3 Category 3   [144 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association310
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional37
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association36
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Functional311
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association39
CTNNB1Catenin (cadherin-associated protein), beta 1, 88kDa3Rare Single Gene Mutation, Syndromic316
CEP41testis specific, 147Rare Single Gene Mutation33
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation311
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association36
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S16
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic36
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association332
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation310
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association334
EP400E1A binding protein p40012Rare Single Gene Mutation35
GRIK2glutamate receptor, ionotropic, kainate 26Rare Single Gene Mutation, Genetic Association316
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association312
KCNJ10Potassium inwardly-rectifying channel, subfamily J, member 101Rare Single Gene Mutation, Syndromic, Genetic Association310
KDM5CLysine (K)-specific demethylase 5CXRare Single Gene Mutation, Syndromic318
KIAA1586KIAA15866Rare Single Gene Mutation33
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association34
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association316
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S25
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional338
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association327
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association314
OPHN1oligophrenin 1XRare Single Gene Mutation39
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association36
PARK2Parkinson disease (autosomal recessive, juvenile) 2, parkin6Rare Single Gene Mutation, Genetic Association314
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLXNA4Plexin A47Rare Single Gene Mutation, Functional33
PON1paraoxonase 17Genetic Association35
PRKCBprotein kinase C, beta16Genetic Association34
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association331
ROBO2Roundabout, axon guidance receptor, homolog 2 (Drosophila)3Rare Single Gene Mutation, Genetic Association, Functional38
SBF1SET binding factor 122Rare Single Gene Mutation36
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, Functional315
SETD2SET domain containing 23Rare Single Gene Mutation39
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation35
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
TBL1XR1Transducin (beta)-like 1 X-linked receptor 13Rare Single Gene Mutation310
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S23
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBR5Ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation35
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association318
ADAadenosine deaminase20Genetic Association35
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association329
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional39
ACHEAcetylcholinesterase (Yt blood group) 7Rare Single Gene Mutation34
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S6
AKAP9A kinase (PRKA) anchor protein 9 7Rare Single Gene Mutation34
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANXA1Annexin A19Rare Single Gene Mutation32
APH1AAPH1A gamma secretase subunit 1Rare Single Gene Mutation32
C11orf30Chromosome 11 open reading frame 3011Rare Single Gene Mutation, Functional33
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation37
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association33
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional311
CCT4Chaperonin containing TCP1, subunit 4 (delta) 2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like) 14Rare Single Gene Mutation35
CGNL1Cingulin-like 115Rare Single Gene Mutation32
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional39
CUL7Cullin 76Rare Single Gene Mutation33
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional33
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation3S4
DENRdensity-regulated protein12Rare Single Gene Mutation32
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation34
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha 2Rare Single Gene Mutation36
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation32
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association35
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation32
FBN1Fibrillin 115Rare Single Gene Mutation36
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation32
GPC4glypican 4XRare Single Gene Mutation31
GPHNGephyrin14Rare Single Gene Mutation37
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation36
KCNQ2Potassium voltage-gated channel, KQT-like subfamily, member 220Rare Single Gene Mutation, Genetic Association313
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation36
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation34
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
KCNQ3Potassium voltage-gated channel, KQT-like subfamily, member 38Rare Single Gene Mutation, Genetic Association36
KIAA2022KIAA2022XRare Single Gene Mutation, Syndromic313
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation39
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic32
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation33
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation32
MFRPMembrane frizzled-related protein 11Rare Single Gene Mutation34
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Functional39
MYO9BMyosin IXB19Rare Single Gene Mutation32
NAV2neuron navigator 211Rare Single Gene Mutation36
NINLNinein-like 20Rare Single Gene Mutation33
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation33
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation35
OR52M1Olfactory receptor, family 52, subfamily M, member 1 11Rare Single Gene Mutation32
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
PAX5Paired box 59Rare Single Gene Mutation33
PHF2PHD finger protein 29Rare Single Gene Mutation34
PHRF1PHD and ring finger domains 1 11Rare Single Gene Mutation34
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20Genetic Association31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2Prickle homolog 2 (Drosophila)3Rare Single Gene Mutation, Functional33
PTK7Protein tyrosine kinase 7 (inactive) 6Rare Single Gene Mutation34
TRIOTrio Rho guanine nucleotide exchange factor 5Rare Single Gene Mutation315
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation36
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic39
SHOXshort stature homeoboxYRare Single Gene Mutation32
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 5 20Rare Single Gene Mutation34
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association311
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional37
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
STXBP5Syntaxin binding protein 5 (tomosyn) 6Rare Single Gene Mutation36
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation35
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation32
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TRPC6Transient receptor potential cation channel, subfamily C, member 6 11Rare Single Gene Mutation32
TRPM1Transient receptor potential cation channel, subfamily M, member 115Rare Single Gene Mutation33
VIL1Villin 12Rare Single Gene Mutation31
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation37
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S15
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic38
CTCFCCCTC-binding factor (zinc finger protein)16Rare Single Gene Mutation, Functional39
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation32
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
CNKSR2connector enhancer of kinase suppressor of Ras 2X3S1
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation35
HIVEP3human immunodeficiency virus type I enhancer binding protein 3 1Rare Single Gene Mutation32
PLXNB1plexin B13Rare Single Gene Mutation33
SHOXshort stature homeoboxXRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional31
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation34
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation32

4 Category 4   [257 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ADCY5Adenylate cyclase 53Rare Single Gene Mutation44
ADKadenosine kinase10Rare Single Gene Mutation41
ADORA2Aadenosine A2a receptor22Syndromic47
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic413
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 Mutation46
ARandrogen receptorXGenetic Association46
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ASMTacetylserotonin O-methyltransferaseXRare Single Gene Mutation, Genetic Association49
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic413
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation43
BZRAP1benzodiazapine receptor (peripheral) associated protein 117Rare Single Gene Mutation45
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Genetic Association, Functional45
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association47
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Genetic Association417
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association45
CADM1cell adhesion molecule 111Rare Single Gene Mutation48
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CCDC64coiled-coil domain containing 6412Genetic Association42
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association49
CDH22cadherin-like 2220Genetic Association44
CDH8cadherin 8, type 216Rare Single Gene Mutation49
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association46
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation44
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association410
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association413
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX2distal-less homeobox 22Genetic Association411
DLX6distal-less homeobox 67Rare Single Gene Mutation48
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Genetic Association47
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association412
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional419
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association410
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
ERGv-ets erythroblastosis virus E26 oncogene homolog (avian)21Genetic Association41
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic47
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
EXT1Exostosin 18Rare Single Gene Mutation44
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association426
GALNT13UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)2Rare Single Gene Mutation44
GALNT14UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)2Rare Single Gene Mutation, Genetic Association44
GAS2Growth arrest-specific 211Genetic Association41
GLO1glyoxalase I6Genetic Association49
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 37 (endothelin receptor type B-like)7Rare Single Gene Mutation42
GPX1glutathione peroxidase 13Genetic Association45
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic47
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association45
GUCY1A2Guanylate cyclase 1, soluble, alpha 211Genetic Association41
HLA-Amajor histocompatibility complex, class I, A6Genetic Association47
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation43
HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')XRare Single Gene Mutation44
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association410
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association45
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association46
ICA1islet cell autoantigen 1, 69kDa7Rare Single Gene Mutation44
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation419
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association42
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation46
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation417
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation44
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association44
LEPLeptin7Rare Single Gene Mutation41
LMX1BLIM homeobox transcription factor 1, beta9Genetic Association41
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association46
LRP2Low density lipoprotein receptor-related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association49
LRRC1leucine rich repeat containing 16Genetic Association44
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation47
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S24
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Syndromic, Genetic Association414
MARK1MAP/microtubule affinity-regulating kinase 11Rare Single Gene Mutation, Genetic Association410
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation46
MCPH1microcephalin 18Rare Single Gene Mutation413
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association48
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association46
NBEAneurobeachin13Rare Single Gene Mutation47
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NDNL2necdin-like 215Functional43
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NFIAnuclear factor I/A1Rare Single Gene Mutation48
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association415
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association47
NRXN2neurexin 211Rare Single Gene Mutation45
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
NXPH1neurexophilin 17Rare Single Gene Mutation44
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OTX1Orthodenticle homeobox 12Genetic Association43
PCDH10protocadherin 104Rare Single Gene Mutation47
PCDH15Protocadherin-related 1510Rare Single Gene Mutation, Genetic Association44
PCDH9protocadherin 913Rare Single Gene Mutation46
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association45
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLNphospholamban6Rare Single Gene Mutation44
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation44
PTGS2prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)1Genetic Association45
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S15
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation47
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation414
REEP3receptor accessory protein 310Rare Single Gene Mutation43
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic411
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation43
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
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 Association425
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic49
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation43
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation42
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association45
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation43
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional419
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional410
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SNTG2Syntrophin, gamma 22Rare Single Gene Mutation45
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
SYN1Synapsin 1XRare Single Gene Mutation, Functional416
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TBX1T-box 122Syndromic41
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TTNtitin2Rare Single Gene Mutation, Syndromic413
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association41
VASH1vasohibin 114Genetic Association44
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
XPO1Exportin 1 (CRM1 homolog, yeast)2Genetic Association43
YWHAETyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide17Rare Single Gene Mutation45
C15orf43chromosome 15 open reading frame 4315Rare Single Gene Mutation41
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare 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
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association413
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation44
NPAS2neuronal PAS domain protein 22Genetic Association44
SYT17synaptotagmin XVII16Genetic Association42
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation46
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ACEangiotensin I converting enzyme 17Rare Single Gene Mutation, Genetic Association42
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional44
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation44
DPP4Dipeptidyl-peptidase 4 2Rare Single Gene Mutation, Genetic Association45
CCDC91coiled-coil domain containing 91 12Rare Single Gene Mutation43
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
DMXL2Dmx-like 2 15Rare Single Gene Mutation42
DOCK1Dedicator of cytokinesis 1 10Rare Single Gene Mutation42
DSTDystonin6Rare Single Gene Mutation44
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association42
DYDC1DPY30 domain containing 11041
EIF3Geukaryotic translation initiation factor 3 subunit G 19Rare Single Gene Mutation43
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Functional44
ERMNermin2Rare Single Gene Mutation41
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association44
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association413
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S13
HLA-BMajor histocompatibility complex, class I, B6Genetic Association43
HYDINHYDIN, axonemal central pair apparatus protein1641
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LRBALPS-responsive vesicle trafficking, beach and anchor containing 4Rare Single Gene Mutation43
MCM4minichromosome maintenance complex component 4 8Rare Single Gene Mutation42
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation43
MNTMAX network transcriptional repressor17Genetic Association41
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation42
NEO1Neogenin 11541
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S6
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OR2T10olfactory receptor family 2 subfamily T member 10 1Rare Single Gene Mutation43
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation43
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S6
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional43
RIT2Ras-like without CAAX 218Genetic Association43
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation43
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SCN4ASodium channel, voltage gated, type IV alpha subunit 17Rare Single Gene Mutation42
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC27A4Solute carrier family 27 (fatty acid transporter), member 4 9Rare Single Gene Mutation41
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation42
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
ZNF559Zinc finger protein 559 19Rare Single Gene Mutation43
ZWILCHzwilch kinetochore protein15Rare Single Gene Mutation43
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional45
CAPN12Calpain 1219Rare Single Gene Mutation44
CYLC2cylicin, basic protein of sperm head cytoskeleton 2 9Rare Single Gene Mutation43
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC2DPY30 domain containing 21041
GLIS1GLIS family zinc finger 11Genetic Association41
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 2 3Genetic Association41
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SSPOSCO-spondin 7Rare Single Gene Mutation43
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
ASMTacetylserotonin O-methyltransferaseYRare Single Gene Mutation, Genetic Association49
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Functional42
CASKcalcium/calmodulin dependent serine protein kinase XRare Single Gene Mutation, Syndromic47
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation4S2
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation45
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation43
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation45
SMC3structural maintenance of chromosomes 3 10Rare Single Gene Mutation43
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation43
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17Rare Single Gene Mutation43
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation43
ZNF292zinc finger protein 2926Rare Single Gene Mutation42
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation42

5 Category 5   [135 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ASS1argininosuccinate synthetase9Functional53
ATRNL1Attractin-like 110Rare Single Gene Mutation51
ATXN7Ataxin 73Rare Single Gene Mutation51
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation56
CD44CD44 molecule (Indian blood group)11Functional53
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association514
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 Mutation510
DNAJC19DnaJ (Hsp40) homolog, subfamily C, member 193Functional51
DNM1LDynamin 1-like12Functional51
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
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation514
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB6EPH receptor B67Rare Single Gene Mutation55
ESR1estrogen receptor 16Syndromic, Genetic Association59
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional55
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)13Functional53
FOLH1Folate hydrolase (prostate-specific membrane antigen) 111Functional52
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic517
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, Syndromic53
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GAP43Growth associated protein 433Functional51
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
KCNT1Potassium channel, subfamily T, member 19Rare Single Gene Mutation, Syndromic58
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association510
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
KLC2Kinesin light chain 211Rare Single Gene Mutation52
MAGED1Melanoma antigen family D, 1XFunctional51
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
MYO1Amyosin IA12Rare Single Gene Mutation57
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NEFLNeurofilament, light polypeptide8Genetic Association51
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2Anitric oxide synthase 2A (inducible, hepatocytes)17Genetic Association56
OPRM1opioid receptor, mu 16Functional54
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Functional54
PDZD4PDZ domain containing 4XRare Single Gene Mutation53
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation53
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation52
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation, Genetic Association59
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation, Functional59
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Functional515
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 241Functional51
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
TLK2tousled-like kinase 217Rare Single Gene Mutation57
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic55
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
TSNtranslin2Functional53
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
DLX1distal-less homeobox 12Genetic Association58
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association55
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation511
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association57
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
LAMC3laminin, gamma 39Rare Single Gene Mutation58
MSNMoesinXFunctional51
MTX2Metaxin 22Functional51
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ATG7Autophagy related 73Functional52
ATP8A1ATPase phospholipid transporting 8A1 4Functional51
AVPArginine vasopressin20Genetic Association, Functional54
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional55
CLSTN3Calsyntenin 312Rare Single Gene Mutation, Functional52
CNR2Cannabinoid receptor 2 (macrophage)1Genetic Association, Functional53
CRHR2corticotropin releasing hormone receptor 27Functional53
CX3CR1Chemokine (C-X3-C motif) receptor 13Functional52
DVL1Dishevelled segment polarity protein 11Functional53
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional51
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Rare Single Gene Mutation, Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Rare Single Gene Mutation, Functional54
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional52
GRM4Glutamate receptor, metabotropic 46Functional51
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional55
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL6interleukin 67Functional55
JAKMIP1Janus kinase and microtubule interacting protein 1 4Rare Single Gene Mutation, Functional56
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
NRG1Neuregulin 18Functional54
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
SRRM4Serine/arginine repetitive matrix 412Rare Single Gene Mutation, Functional55
PVALBParvalbumin22Functional51
SLC30A3solute carrier family 30 member 32Functional52
SLC33A1solute carrier family 33 member 13Functional54
STAT1signal transducer and activator of transcription 12Rare Single Gene Mutation, Functional52
SYN3Synapsin III22Functional51
TERTtelomerase reverse transcriptase 5Rare Single Gene Mutation, Functional52
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional56
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UCN3urocortin 310Functional51
UPF2UPF2 regulator of nonsense transcripts homolog (yeast)10Rare Single Gene Mutation54
VLDLRVery low density lipoprotein receptor9Functional53
DGKKdiacylglycerol kinase kappa XFunctional51
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Genetic Association, Functional57
MALmal, T-cell differentiation protein2Functional52
WDR93WD repeat domain 9315Rare Single Gene Mutation51
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional52
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56

6 Category 6   [19 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
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation64
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CSNK1Dcasein kinase 1, delta17Rare Single Gene Mutation61
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation, Genetic Association, Functional67
GRM8glutamate receptor, metabotropic 87Rare Single Gene Mutation, Genetic Association67
MED12mediator complex subunit 12XRare Single Gene Mutation, Syndromic, Genetic Association618
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
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 Mutation66
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation, Genetic Association65
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