Gene Scoring  /  Category 1   214 genes

Database updated on February 23, 2022

Chromosomes:  All
  • Select all
  • Unselect all

Category:
Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S7
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S62
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S8
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic119
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S23
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S13
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation, Functional121
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association128
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S60
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation12
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S16
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S68
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S23
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional128
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S39
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic128
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional153
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, Functional1S23
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S15
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic1S7
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association, Functional1S28
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S55
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation118
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation, Functional111
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Syndromic, Functional15
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, Functional1S48
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional113
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic1S11
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S67
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S11
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S36
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S78
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional1S8
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S14
CORO1Acoronin 1A16Rare Single Gene Mutation12
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S34
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic1S4
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional115
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S21
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic130
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional126
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S41
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S24
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S18
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional110
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional117
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S10
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S25
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Syndromic, Genetic Association, Functional115
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional115
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic, Functional126
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S64
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S17
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S33
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, Syndromic1S20
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S48
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S49
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S62
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional150
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation13
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association, Functional144
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation114
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation18
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic14
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation19
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional123
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional154
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional171
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, Functional1S11
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic117
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S32
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, Functional1S45
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S10
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S10
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation, Functional114
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S19
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association118
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S2
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional118
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional131
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic, Functional117
KIAA0232KIAA02324Rare Single Gene Mutation13
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S39
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S27
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association1S16
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional120
LDB1LIM domain binding 110Rare Single Gene Mutation12
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation12
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic115
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S21
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S40
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S14
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S107
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S7
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S43
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S44
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S11
MKXmohawk homeobox10Rare Single Gene Mutation13
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic16
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S28
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional131
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S16
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S8
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S21
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic113
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation, Syndromic13
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional131
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association1S30
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S17
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional139
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association137
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S10
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic19
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1100
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association113
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional122
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S25
NUP155nucleoporin 1555Rare Single Gene Mutation12
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S12
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic19
PAX5Paired box 59Rare Single Gene Mutation110
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S9
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S52
PHF12PHD finger protein 1217Rare Single Gene Mutation13
PHF2PHD finger protein 29Rare Single Gene Mutation17
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S12
PHF3PHD finger protein 36Rare Single Gene Mutation14
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S20
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S53
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S7
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation13
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S25
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation13
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S6
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic1S3
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association114
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S78
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation16
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S22
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S29
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation15
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional160
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S8
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, Functional1S9
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic14
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S84
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional196
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic, Functional152
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic125
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Functional17
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic117
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S30
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional143
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S120
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S14
SKISKIproto-oncogene1Rare Single Gene Mutation14
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S43
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S19
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S25
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic, Functional117
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S15
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S18
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S15
SPASTSpastin2Rare Single Gene Mutation, Syndromic114
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic18
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation12
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S65
SYN1Synapsin 1XRare Single Gene Mutation, Functional123
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S82
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S13
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic1S6
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S2
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic, Functional130
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional138
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S15
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S61
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic19
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation13
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S18
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation12
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S7
TRIM23tripartite motif containing 235Rare Single Gene Mutation16
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional138
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S28
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S29
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S45
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional14
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S13
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation13
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Functional1S24
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S25
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional121
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S6
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S28
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic17
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S10
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S10
Submit New Gene

Report an Error