Gene Scoring  /  Category 1   213 genes

Database updated on February 23, 2022

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S6
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional156
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic18
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic117
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic118
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic112
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation120
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association128
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic155
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic115
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional163
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic122
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Functional125
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic136
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic126
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation12
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional151
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation16
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation16
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Functional122
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic113
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic16
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association1S22
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional154
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation116
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation18
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional14
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic120
CASZ1castor zinc finger 11Rare Single Gene Mutation15
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional144
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional113
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic110
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic160
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic110
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional132
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional172
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional18
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic114
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association133
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic14
CORO1Acoronin 1A16Rare Single Gene Mutation12
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional114
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional120
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic127
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional126
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional134
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic121
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic118
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional110
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional116
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic110
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association121
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association, Functional114
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional114
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic123
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional157
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic115
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional131
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation14
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation15
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic119
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional144
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional146
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional159
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional148
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association141
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation113
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation18
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation13
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic14
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation18
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional119
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional149
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional167
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation15
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation18
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional19
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic117
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional130
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional139
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic19
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional19
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation113
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic116
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association116
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic12
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional118
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional129
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic113
KIAA0232KIAA02324Rare Single Gene Mutation13
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional136
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional123
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association114
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional117
LDB1LIM domain binding 110Rare Single Gene Mutation12
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation12
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic114
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional121
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional139
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic113
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional197
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic15
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic139
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional143
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic110
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MKXmohawk homeobox10Rare Single Gene Mutation12
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional126
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional127
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic114
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic18
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional121
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic113
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional128
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation, Syndromic13
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association127
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic115
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional138
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association137
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic19
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic18
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional199
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association113
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional120
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic124
NUP155nucleoporin 1555Rare Single Gene Mutation12
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic111
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic17
PAX5Paired box 59Rare Single Gene Mutation19
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S9
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional143
PHF2PHD finger protein 29Rare Single Gene Mutation17
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic112
PHF3PHD finger protein 36Rare Single Gene Mutation14
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic117
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional146
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic16
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic121
PHF12PHD finger protein 1217Rare Single Gene Mutation13
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic16
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation13
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation12
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic13
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association114
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional173
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation16
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional120
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional126
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation15
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional157
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association18
RFX3regulatory factor X39Rare Single Gene Mutation, Syndromic19
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association18
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional19
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association176
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic14
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional187
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic145
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic121
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic14
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic117
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic129
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional142
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1110
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic114
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association139
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional119
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S23
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic113
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional114
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional117
SKISKIproto-oncogene1Rare Single Gene Mutation13
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association115
SPASTSpastin2Rare Single Gene Mutation, Syndromic114
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic17
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional155
SYN1Synapsin 1XRare Single Gene Mutation, Functional123
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional175
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional113
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic15
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation12
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic12
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic127
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional136
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional114
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional157
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic19
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic117
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic17
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional134
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic124
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation13
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation12
TRIM23tripartite motif containing 235Rare Single Gene Mutation16
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional125
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional142
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional138
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic117
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S11
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic122
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic124
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation13
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional120
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional16
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic128
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic19
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic110
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation16
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