Gene Scoring 698 total scored genes, 212 uncategorized

Database updated on October 12, 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   [102 genes]

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, FunctionalS8
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, SyndromicS7
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene MutationS5
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S14
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S20
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, SyndromicS9
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S28
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S30
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, SyndromicS5
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS18
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, SyndromicS28
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase) 15SyndromicS2
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic AssociationS12
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS15
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS8
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic AssociationS37
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS34
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S19
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS39
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationS6
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S31
ARXaristaless related homeoboxXRare Single Gene Mutation, SyndromicS13
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S12
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S22
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, SyndromicS20
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S24
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S9
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, SyndromicS12
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, SyndromicS7
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S7
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S12
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S1
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S55
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, SyndromicS7
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S63
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic AssociationS21
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S9
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicS1
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S43
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SLC45A1solute carrier family 45 member 11Rare Single Gene Mutation, SyndromicS2
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S27
RAI1retinoic acid induced 117Rare Single Gene Mutation, SyndromicS16
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S40
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalS6
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S25
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, SyndromicS12
PCDH19protocadherin 19XRare Single Gene Mutation, SyndromicS18
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S17
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicS4
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic AssociationS11
SOX5SRY (sex determining region Y)-box 512Rare Single Gene MutationS9
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S9
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicS7
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, SyndromicS2
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S16
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, FunctionalS11
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S12
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, SyndromicS7
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS6
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S8
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS4
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
PACS1phosphofurin acidic cluster sorting protein 111SyndromicS4
PIK3R2Phosphoinositide-3-kinase, regulatory subunit 2 (beta)19Rare Single Gene Mutation, SyndromicS3
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS5
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS4
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
OCRLoculocerebrorenal syndrome of LoweXSyndromicS4
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic AssociationS31
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
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S6
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S38
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S13
YY1YY1 transcription factor14Syndromic, FunctionalS3
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S16
STAG1stromal antigen 13SyndromicS1
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS3
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S24
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, Syndromic2S11
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, SyndromicS16
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3

1 Category 1   [24 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S20
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S28
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S30
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S12
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S24
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation110
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association141
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation111
CUL3Cullin 32Rare Single Gene Mutation113
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association17
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S43
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional141
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association114
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S16
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S12
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic143
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation18
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation15
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association118
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S38

2 Category 2   [55 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
FOXP1forkhead box P13Rare Single Gene Mutation, Genetic Association, Functional228
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association217
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation220
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association235
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S31
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S22
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S9
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S12
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S55
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Functional212
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation25
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation24
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation26
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
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
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Functional223
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional28
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S63
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association268
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S9
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Genetic Association214
KMT2CLysine (K)-specific methyltransferase 2C 7Rare Single Gene Mutation29
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic216
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation28
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic25
MED13mediator complex subunit 1317Rare Single Gene Mutation23
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional234
MSNP1ASMoesin pseudogene 1, antisense5Genetic Association, Functional211
NCKAP1NCK-associated protein 12Rare Single Gene Mutation26
NLGN3neuroligin 3XRare Single Gene Mutation232
PHF3PHD finger protein 36Rare Single Gene Mutation22
RANBP17RAN binding protein 175Rare Single Gene Mutation23
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated) 16Rare Single Gene Mutation, Syndromic26
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional211
TBL1XR1Transducin (beta)-like 1 X-linked receptor 13Rare Single Gene Mutation211
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S13
SPASTSpastin2Rare Single Gene Mutation28
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRSF11serine and arginine rich splicing factor 11 1Rare Single Gene Mutation22
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation28
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, Syndromic2S11
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation25
UBN2ubinuclein 27Rare Single Gene Mutation23

3 Category 3   [150 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
CTCFCCCTC-binding factor (zinc finger protein)16Rare Single Gene Mutation, Functional310
CTNNB1Catenin (cadherin-associated protein), beta 1, 88kDa3Rare Single Gene Mutation, Syndromic318
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic36
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association332
FBN1Fibrillin 115Rare Single Gene Mutation37
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional312
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association319
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association39
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association336
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association311
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
DYNC1H1dynein cytoplasmic 1 heavy chain 1 14Rare Single Gene Mutation39
GRIK2glutamate receptor, ionotropic, kainate 26Rare Single Gene Mutation, Genetic Association317
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional39
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S19
GPHNGephyrin14Rare Single Gene Mutation38
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association36
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association35
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation34
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S7
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association332
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association33
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation311
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S1
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional39
ACHEAcetylcholinesterase (Yt blood group) 7Rare Single Gene Mutation34
ADAadenosine deaminase20Genetic Association35
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation33
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
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional37
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association37
C11orf30Chromosome 11 open reading frame 3011Rare Single Gene Mutation, Functional33
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation38
KCNJ10Potassium inwardly-rectifying channel, subfamily J, member 101Rare Single Gene Mutation, Syndromic, Genetic Association310
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
CCT4Chaperonin containing TCP1, subunit 4 (delta) 2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like) 14Rare Single Gene Mutation36
CEP41testis specific, 147Rare Single Gene Mutation33
CGNL1Cingulin-like 115Rare Single Gene Mutation32
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CUL7Cullin 76Rare Single Gene Mutation33
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional33
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
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 Mutation37
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation35
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation310
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation32
EP400E1A binding protein p40012Rare Single Gene Mutation35
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation32
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation32
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation33
GPC4glypican 4XRare Single Gene Mutation31
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation36
HIVEP3human immunodeficiency virus type I enhancer binding protein 3 1Rare Single Gene Mutation, Genetic Association33
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association312
SBF1SET binding factor 122Rare Single Gene Mutation36
KCNQ2Potassium voltage-gated channel, KQT-like subfamily, member 220Rare Single Gene Mutation, Genetic Association315
KCNQ3Potassium voltage-gated channel, KQT-like subfamily, member 38Rare Single Gene Mutation, Genetic Association36
KIAA2022KIAA2022XRare Single Gene Mutation, Syndromic315
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association317
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional339
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic310
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S27
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association328
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association315
OPHN1oligophrenin 1XRare Single Gene Mutation310
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S40
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 5 20Rare Single Gene Mutation34
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Functional311
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
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic32
PARK2Parkinson disease (autosomal recessive, juvenile) 2, parkin6Rare Single Gene Mutation, Genetic Association314
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association332
SETD2SET domain containing 23Rare Single Gene Mutation39
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2Prickle homolog 2 (Drosophila)3Rare Single Gene Mutation, Functional33
KDM5CLysine (K)-specific demethylase 5CXRare Single Gene Mutation, Syndromic319
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation37
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
ROBO2Roundabout, axon guidance receptor, homolog 2 (Drosophila)3Rare Single Gene Mutation, Genetic Association, Functional38
KIAA1586KIAA15866Rare Single Gene Mutation33
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation39
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation33
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association34
LMX1BLIM homeobox transcription factor 1, beta9Genetic Association31
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation32
MFRPMembrane frizzled-related protein 11Rare Single Gene Mutation34
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association34
MYO9BMyosin IXB19Rare Single Gene Mutation32
NAV2neuron navigator 211Rare Single Gene Mutation37
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
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association36
PAX5Paired box 59Rare Single Gene Mutation34
PER2period circadian clock 22Rare Single Gene Mutation32
PHBprohibitin17Genetic Association31
PHF2PHD finger protein 29Rare Single Gene Mutation35
PHRF1PHD and ring finger domains 1 11Rare Single Gene Mutation34
PLXNA4Plexin A47Rare Single Gene Mutation, Functional33
PLXNB1plexin B13Rare Single Gene Mutation33
PON1paraoxonase 17Genetic Association35
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20Genetic Association31
PRKCBprotein kinase C, beta16Genetic Association34
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 Mutation36
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation35
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
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 Association311
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional31
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
TRIOTrio Rho guanine nucleotide exchange factor 5Rare Single Gene Mutation315
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S16
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic38
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
STXBP5Syntaxin binding protein 5 (tomosyn) 6Rare Single Gene Mutation36
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation32
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation32
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S24
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation37
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
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBR5Ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation35
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation32
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
VIL1Villin 12Rare Single Gene Mutation31
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation32

4 Category 4   [263 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic414
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation420
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S14
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation417
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association45
ADORA2Aadenosine A2a receptor22Syndromic47
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional44
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association49
CADM1cell adhesion molecule 111Rare Single Gene Mutation48
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association413
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
ICA1islet cell autoantigen 1, 69kDa7Rare Single Gene Mutation44
ADCY5Adenylate cyclase 53Rare Single Gene Mutation45
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic414
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation43
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation43
BST1bone marrow stromal cell antigen 14Genetic Association, Functional44
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic47
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association411
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation47
CASKcalcium/calmodulin dependent serine protein kinase XRare Single Gene Mutation, Syndromic48
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')XRare Single Gene Mutation44
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation47
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association411
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ACEangiotensin I converting enzyme 17Rare Single Gene Mutation, Genetic Association42
ADKadenosine kinase10Rare Single Gene Mutation41
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation48
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
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
BZRAP1benzodiazapine receptor (peripheral) associated protein 117Rare Single Gene Mutation45
C15orf43chromosome 15 open reading frame 4315Rare Single Gene Mutation41
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 Association418
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association430
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association45
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Functional42
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CAPN12Calpain 1219Rare Single Gene Mutation44
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CCDC64coiled-coil domain containing 6412Genetic Association42
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation44
CCDC91coiled-coil domain containing 91 12Rare Single Gene Mutation43
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
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation44
CYLC2cylicin, basic protein of sperm head cytoskeleton 2 9Rare Single Gene Mutation43
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX2distal-less homeobox 22Genetic Association411
DLX6distal-less homeobox 67Rare Single Gene Mutation49
DMXL2Dmx-like 2 15Rare Single Gene Mutation42
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DOCK1Dedicator of cytokinesis 1 10Rare Single Gene Mutation42
DPP4Dipeptidyl-peptidase 4 2Rare Single Gene Mutation, Genetic Association46
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Genetic Association47
DSTDystonin6Rare Single Gene Mutation44
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association42
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC1DPY30 domain containing 11041
DYDC2DPY30 domain containing 21041
EIF3Geukaryotic translation initiation factor 3 subunit G 19Rare 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, Functional419
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
ERGv-ets erythroblastosis virus E26 oncogene homolog (avian)21Genetic Association41
ERMNermin2Rare Single Gene Mutation41
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation41
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association411
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association46
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
GLIS1GLIS family zinc finger 11Genetic 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
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association44
GPX1glutathione peroxidase 13Genetic Association45
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association49
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, alpha 211Genetic Association41
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation42
HLA-Amajor histocompatibility complex, class I, A6Genetic Association48
HLA-BMajor histocompatibility complex, class I, B6Genetic Association43
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association46
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 protein1641
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association42
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation42
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional42
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S9
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional43
RIT2Ras-like without CAAX 218Genetic Association43
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
NRXN2neurexin 211Rare Single Gene Mutation45
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional419
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association413
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S25
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association416
NXPH1neurexophilin 17Rare Single Gene Mutation44
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation46
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S17
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association46
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation44
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic411
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association425
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional410
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 Association411
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic48
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S8
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic49
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Syndromic, Genetic Association414
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NFIAnuclear factor I/A1Rare Single Gene Mutation48
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association413
PCDH9protocadherin 913Rare Single Gene Mutation46
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation48
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation44
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association45
LEPLeptin7Rare Single Gene Mutation41
LRBALPS-responsive vesicle trafficking, beach and anchor containing 4Rare Single Gene Mutation43
LRRC1leucine rich repeat containing 16Genetic Association45
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation43
MARK1MAP/microtubule 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
MCM4minichromosome maintenance complex component 4 8Rare Single Gene Mutation42
MCPH1microcephalin 18Rare Single Gene Mutation413
MEGF10multiple EGF like domains 105Genetic Association44
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation43
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association48
MNTMAX network transcriptional repressor17Genetic Association41
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation43
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association47
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 2 3Genetic Association41
NBEAneurobeachin13Rare Single Gene Mutation48
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation43
NDNL2necdin-like 215Functional43
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEO1Neogenin 11541
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NPAS2neuronal PAS domain protein 22Genetic Association44
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation43
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association47
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
NUP133nucleoporin 133kDa1Rare 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
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OR2T10olfactory receptor family 2 subfamily T member 10 1Rare Single Gene Mutation43
OTX1Orthodenticle homeobox 12Genetic Association43
PCDH10protocadherin 104Rare Single Gene Mutation47
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation42
PCDH15Protocadherin-related 1510Rare Single Gene Mutation, Genetic Association44
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association45
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLNphospholamban6Rare Single Gene Mutation44
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation44
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation43
PTGS2prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)1Genetic Association45
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation414
REEP3receptor accessory protein 310Rare Single Gene Mutation43
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation43
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
SCN4ASodium channel, voltage gated, type IV alpha subunit 17Rare Single Gene Mutation42
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association44
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association45
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation43
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC27A4Solute carrier family 27 (fatty acid transporter), member 4 9Rare Single Gene Mutation41
SMC3structural maintenance of chromosomes 3 10Rare Single Gene Mutation44
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SNTG2Syntrophin, gamma 22Rare Single Gene Mutation45
TTNtitin2Rare Single Gene Mutation, Syndromic414
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S6
SYN1Synapsin 1XRare Single Gene Mutation, Functional416
TBX1T-box 122Syndromic41
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation43
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation43
SSPOSCO-spondin 7Rare Single Gene Mutation43
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
SYT17synaptotagmin XVII16Genetic Association42
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17Rare Single Gene Mutation43
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation46
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional45
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation42
TTC25tetratricopeptide repeat domain 2517Genetic Association41
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association42
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
VASH1vasohibin 114Genetic Association44
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
XPO1Exportin 1 (CRM1 homolog, yeast)2Genetic Association43
YWHAETyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide17Rare Single Gene Mutation45
ZNF292zinc finger protein 2926Rare Single Gene Mutation42
ZNF559Zinc finger protein 559 19Rare Single Gene Mutation43
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
ZWILCHzwilch kinetochore protein15Rare Single Gene Mutation43

5 Category 5   [136 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation, Genetic Association511
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, Syndromic53
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation511
FGFBP3fibroblast growth factor binding protein 310Rare Single Gene Mutation51
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association510
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation56
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association516
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional51
FGD1FYVE, RhoGEF and PH domain containing 1XRare Single Gene Mutation, Syndromic53
ESR1estrogen receptor 16Syndromic, Genetic Association59
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association55
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association57
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic520
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ASS1argininosuccinate synthetase9Functional53
ATG7Autophagy related 73Functional52
ATP8A1ATPase phospholipid transporting 8A1 4Functional51
ATRNL1Attractin-like 110Rare Single Gene Mutation51
ATXN7Ataxin 73Rare Single Gene Mutation51
AVPArginine vasopressin20Genetic Association, Functional54
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
CBLN1cerebellin 1 precursor16Genetic Association, Functional56
CD44CD44 molecule (Indian blood group)11Functional53
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
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
DGKKdiacylglycerol kinase kappa XFunctional51
DLX1distal-less homeobox 12Genetic Association58
DNAJC19DnaJ (Hsp40) homolog, subfamily C, member 193Functional51
DNM1LDynamin 1-like12Rare Single Gene Mutation, Functional52
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
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation514
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional56
FLT1fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)13Functional53
FOLH1Folate hydrolase (prostate-specific membrane antigen) 111Functional52
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional56
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Genetic Association, Functional57
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
GAP43Growth associated protein 433Functional51
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional53
GRM4Glutamate receptor, metabotropic 46Functional51
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional55
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL6interleukin 67Functional55
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
JAKMIP1Janus kinase and microtubule interacting protein 1 4Rare Single Gene Mutation, Functional56
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Functional515
SLC16A7Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)12Rare Single Gene Mutation51
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
KCNT1Potassium channel, subfamily T, member 19Rare Single Gene Mutation, Syndromic59
PDZD4PDZ domain containing 4XRare Single Gene Mutation53
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KLC2Kinesin light chain 211Rare Single Gene Mutation52
LAMC3laminin, gamma 39Rare Single Gene Mutation58
MAGED1Melanoma antigen family D, 1XFunctional51
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
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MSNMoesinXFunctional51
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
MTX2Metaxin 22Functional51
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
NOS2Anitric oxide synthase 2A (inducible, hepatocytes)17Genetic Association56
NRG1Neuregulin 18Functional54
OPRM1opioid receptor, mu 16Functional54
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Functional54
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional52
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
PVALBParvalbumin22Functional51
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation54
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, Functional510
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
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
UPF2UPF2 regulator of nonsense transcripts homolog (yeast)10Rare Single Gene Mutation54
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
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
TERTtelomerase reverse transcriptase 5Rare Single Gene Mutation, Functional52
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic55
TLK2tousled-like kinase 217Rare Single Gene Mutation57
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional56
TSNtranslin2Functional53
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UCN3urocortin 310Functional51
VLDLRVery low density lipoprotein receptor9Functional53
WDR93WD repeat domain 9315Rare Single Gene Mutation51
ZNF8Zinc finger protein 819Rare Single Gene Mutation51

6 Category 6   [19 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation, Genetic Association, Functional67
AFF4AF4/FMR2 family, member 45Rare Single Gene Mutation, Syndromic67
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation64
ARHGAP15Rho GTPase activating protein 152Rare Single Gene Mutation67
BCL2B-cell CLL/lymphoma 218Functional610
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CSNK1Dcasein kinase 1, delta17Rare Single Gene Mutation61
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
GRM8glutamate receptor, metabotropic 87Rare Single Gene Mutation, Genetic Association67
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation, Genetic Association65
MED12mediator complex subunit 12XRare Single Gene Mutation, Syndromic, Genetic Association618
SLC16A3solute carrier family 16, member 3 (monocarboxylic acid transporter 4)17Rare Single Gene Mutation62
TPH2tryptophan hydroxylase 212Rare Single Gene Mutation, Genetic Association612
UBL7ubiquitin-like 7 (bone marrow stromal cell-derived)15Rare Single Gene Mutation61
SUCLG2succinate-CoA ligase, GDP-forming, beta subunit3Rare Single Gene Mutation64
TAF1LTAF1 RNA polymerase II9Rare Single Gene Mutation63
TGM3transglutaminase 320Rare Single Gene Mutation65
XIRP1xin actin-binding repeat containing 13Rare Single Gene Mutation66
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
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