Gene Scoring  /  Category 3   184 genes

Database updated on November 21, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation34
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association36
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation33
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S9
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation34
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association324
ANXA1Annexin A19Rare Single Gene Mutation32
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional33
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation32
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic35
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association312
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional37
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association39
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association332
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association321
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation35
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation38
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association34
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional39
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation36
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional39
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic36
CEP41testis specific, 147Rare Single Gene Mutation33
CGNL1Cingulin-like 115Rare Single Gene Mutation33
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic35
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation313
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S3
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association37
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association312
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional311
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional312
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic320
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic36
CPEB4cytoplasmic polyadenylation element binding protein 45Functional31
CUL7Cullin 76Rare Single Gene Mutation33
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional315
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
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association334
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional36
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic3S9
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation37
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation311
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association312
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic312
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S20
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation33
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association35
EP400E1A binding protein p40012Rare Single Gene Mutation36
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional33
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation33
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation33
FBN1Fibrillin 115Rare Single Gene Mutation39
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association338
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation32
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation33
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association39
GPC4glypican 4XRare Single Gene Mutation32
GPHNGephyrin14Rare Single Gene Mutation38
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association36
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association317
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation36
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional314
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation33
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic37
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association34
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association314
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association311
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S8
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association310
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association319
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association37
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic321
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation38
KIAA1586KIAA15866Rare Single Gene Mutation33
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation313
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation33
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association35
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation34
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association317
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association31
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S29
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation35
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional3S15
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association34
MYO9BMyosin IXB19Rare Single Gene Mutation33
MYH10myosin heavy chain 1017Rare Single Gene Mutation35
NAV2neuron navigator 211Rare Single Gene Mutation38
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic318
NINLNinein-like20Rare Single Gene Mutation33
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association317
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association329
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation33
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association317
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation35
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic313
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation32
OTUD7AOTU deubiquitinase 7A15Functional33
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional342
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic32
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
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic3S10
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation34
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLXNA4Plexin A47Rare Single Gene Mutation, Functional34
PLXNB1plexin B13Rare Single Gene Mutation33
PON1paraoxonase 17Genetic Association35
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Genetic Association31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional33
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association36
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association314
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation34
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation38
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation32
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic3S21
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association332
RBM27RNA binding motif protein 275Rare Single Gene Mutation32
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional38
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation33
SBF1SET binding factor 122Rare Single Gene Mutation36
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S49
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic326
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Rare Single Gene Mutation, Genetic Association, Functional316
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic311
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic310
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation35
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation35
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association313
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional31
SMAD4SMAD family member 418Rare Single Gene Mutation34
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic36
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional38
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association38
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional3S32
SLC35B1solute carrier family 35 member B117Genetic Association31
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation36
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation32
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation36
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation33
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S39
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation32
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation34
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic311
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation32
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation33
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association3S27
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S26
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation36
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation32
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
VIL1Villin 12Rare Single Gene Mutation31
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic38
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S18
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation33
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic310
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association311
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