Gene Scoring / Category 3 168 genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
---|---|---|---|---|---|---|---|
ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 3 | 4 | ||
ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 3 | 7 | ||
AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 3 | 4 | ||
AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 3 | 1 | ||
ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 3 | 2 | ||
APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 3 | 2 | ||
AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
ASPM | abnormal spindle microtubule assembly | 1 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
ASTN2 | astrotactin 2 | 9 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association | 3 | 21 | ||
BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 3 | 5 | ||
CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 3 | 9 | ||
CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
CCT4 | Chaperonin containing TCP1, subunit 4 (delta) | 2 | Rare Single Gene Mutation | 3 | 3 | ||
CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation | 3 | 7 | ||
CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
CEP135 | centrosomal protein 135 | 4 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 3 | 1 | ||
CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 3 | 13 | ||
CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 3 | 1 | ||
CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Syndromic | 3 | S | 4 | |
CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Functional | 3 | 1 | ||
CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 3 | 1 | ||
DENR | density-regulated protein | 12 | Rare Single Gene Mutation | 3 | 3 | ||
DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation | 3 | 5 | ||
DISC1 | disrupted in schizophrenia 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 34 | ||
DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 3 | 8 | ||
DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 3 | 11 | ||
DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Genetic Association | 3 | 12 | ||
DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 3 | 5 | ||
ELAVL3 | ELAV like neuron-specific RNA binding protein 3 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
ELP4 | Elongator acetyltransferase complex subunit 4 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation | 3 | 6 | ||
EMSY | EMSY, BRCA2 interacting transcriptional repressor | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
ETFB | Electron-transfer-flavoprotein, beta polypeptide | 19 | Rare Single Gene Mutation | 3 | 3 | ||
FAM92B | Family with sequence similarity 92, member B | 16 | Rare Single Gene Mutation | 3 | 3 | ||
FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation | 3 | 10 | ||
FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 41 | ||
GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
GPC4 | glypican 4 | X | Rare Single Gene Mutation | 3 | 2 | ||
GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 3 | 8 | ||
GRID1 | Glutamate receptor, ionotropic, delta 1 | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 18 | ||
GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 3 | 8 | ||
GABRG3 | gamma-aminobutyric acid type A receptor gamma3 subunit | 15 | Genetic Association | 3 | 9 | ||
GALNT8 | polypeptide N-acetylgalactosaminyltransferase 8 | 12 | Rare Single Gene Mutation | 3 | 1 | ||
HECTD4 | HECT domain E3 ubiquitin protein ligase 4 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 2 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 3 | 1 | ||
ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 3 | 8 | ||
ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 20 | ||
KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 22 | ||
KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 3 | 15 | ||
KCNS3 | potassium voltage-gated channel modifier subfamily S member 3 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
KDM4C | lysine demethylase 4C | 9 | Rare Single Gene Mutation | 3 | 1 | ||
KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 7 | ||
LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
LMX1B | LIM homeobox transcription factor 1 beta | 9 | Genetic Association | 3 | 1 | ||
MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 3 | 6 | ||
MYO5A | myosin VA | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
MIR137 | microRNA 137 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | 10 | ||
MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation | 3 | 4 | ||
NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation | 3 | 9 | ||
NINL | Ninein-like | 20 | Rare Single Gene Mutation | 3 | 4 | ||
NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 17 | ||
NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 3 | 5 | ||
NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 3 | 3 | ||
NUAK1 | NUAK family, SNF1-like kinase, 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 3 | 14 | ||
OR52M1 | Olfactory receptor, family 52, subfamily M, member 1 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
OTUD7A | OTU deubiquitinase 7A | 15 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
OXTR | oxytocin receptor | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 44 | ||
P2RX5 | Purinergic receptor P2X, ligand gated ion channel, 5 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
P4HA2 | Prolyl 4-hydroxylase, alpha polypeptide II | 5 | Rare Single Gene Mutation | 3 | 4 | ||
PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 3 | 3 | ||
PARD3B | Par-3 partitioning defective 3 homolog B (C. elegans) | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
NUDCD2 | NudC domain containing 2 | 5 | Rare Single Gene Mutation | 3 | 2 | ||
PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation | 3 | 4 | ||
PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
PLCB1 | phospholipase C, beta 1 (phosphoinositide-specific) | 20 | Rare Single Gene Mutation | 3 | 7 | ||
PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
PREX1 | Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | 20 | Genetic Association | 3 | 1 | ||
PRICKLE1 | Prickle homolog 1 (Drosophila) | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 4 | ||
PRICKLE2 | prickle planar cell polarity protein 2 | 3 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
PRKCB | protein kinase C beta | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 3 | S | 6 | |
PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 15 | ||
PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 3 | 4 | ||
PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 3 | 4 | ||
RAB2A | RAB2A, member RAS oncogene family | 8 | Rare Single Gene Mutation | 3 | 8 | ||
RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 3 | 2 | ||
RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1 | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 33 | ||
RBM27 | RNA binding motif protein 27 | 5 | Rare Single Gene Mutation | 3 | 3 | ||
PHB | prohibitin | 17 | Genetic Association | 3 | 1 | ||
PON1 | paraoxonase 1 | 7 | Genetic Association | 3 | 5 | ||
ROBO2 | roundabout guidance receptor 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 3 | 8 | ||
SEMA5A | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 3 | 2 | ||
SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation | 3 | 5 | ||
SLC35B1 | solute carrier family 35 member B1 | 17 | Genetic Association | 3 | 1 | ||
SLC38A10 | solute carrier family 38, member 10 | 17 | Rare Single Gene Mutation | 3 | 1 | ||
SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 15 | ||
SLC7A3 | Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | X | Rare Single Gene Mutation | 3 | 2 | ||
SLC7A5 | solute carrier family 7 member 5 | 16 | Functional | 3 | 2 | ||
SMAD4 | SMAD family member 4 | 18 | Rare Single Gene Mutation | 3 | 4 | ||
SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 3 | 6 | ||
TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
SLITRK5 | SLIT and NTRK like family member 5 | 13 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
SNX5 | sorting nexin 5 | 20 | Rare Single Gene Mutation | 3 | 3 | ||
SPEN | spenfamily transcriptional repressor | 1 | Rare Single Gene Mutation | 3 | 6 | ||
ST8SIA2 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 8 | ||
TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation | 3 | 3 | ||
TERF2 | Telomeric repeat binding factor 2 | 16 | Rare Single Gene Mutation | 3 | 3 | ||
TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 13 | ||
TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
TRPM1 | transient receptor potential cation channel subfamily M member 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation | 3 | 4 | ||
UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation | 3 | 6 | ||
UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation | 3 | 3 | ||
USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 3 | 2 | ||
VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 3 | 1 | ||
WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
ZC3H4 | zinc finger CCCH-type containing 4 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
ZMYND11 | Zinc finger, MYND-type containing 11 | 10 | Rare Single Gene Mutation, Syndromic | 3 | 10 | ||
WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 3 | 5 | ||
ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 13 |