Gene Scoring / Category 5 175 genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ADARB1 | Adenosine deaminase, RNA-specific, B1 | 21 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| APC | adenomatosis polyposis coli | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 9 | ||
| ARHGAP24 | Rho GTPase activating protein 24 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| ARHGAP33 | Rho GTPase activating protein 33 | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ADAMTS18 | ADAM metallopeptidase with thrombospondin type 1 motif 18 | 16 | Rare Single Gene Mutation, Syndromic | 5 | 4 | ||
| ALOX5AP | arachidonate 5-lipoxygenase-activating protein | 3 | Functional | 5 | 4 | ||
| AMBRA1 | autophagy and beclin 1 regulator 1 | 11 | Functional | 5 | 3 | ||
| APP | Amyloid beta (A4) precursor protein | 21 | Functional | 5 | 3 | ||
| ASS1 | argininosuccinate synthetase | 9 | Functional | 5 | 3 | ||
| ATG7 | Autophagy related 7 | 3 | Functional | 5 | 3 | ||
| ATP8A1 | ATPase phospholipid transporting 8A1 | 4 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ATRNL1 | Attractin-like 1 | 10 | Rare Single Gene Mutation | 5 | 2 | ||
| ATXN7 | Ataxin 7 | 3 | Rare Single Gene Mutation | 5 | 1 | ||
| AVP | Arginine vasopressin | 20 | Genetic Association, Functional | 5 | 4 | ||
| BAIAP2 | BAI1-associated protein 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| BDNF | Brain-derived neurotrophic factor | 11 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| BRINP1 | BMP/retinoic acid inducible neural specific 1 | 9 | Functional | 5 | 2 | ||
| CAMSAP2 | calmodulin regulated spectrin-associated protein family, member 2 | 1 | Rare Single Gene Mutation | 5 | 1 | ||
| CAMTA1 | calmodulin binding transcription activator 1 | 1 | Rare Single Gene Mutation | 5 | 8 | ||
| CD44 | CD44 molecule (Indian blood group) | 11 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CDKN1B | cyclin dependent kinase inhibitor 1B | 12 | 5 | 1 | |||
| CHD5 | chromodomain helicase DNA binding protein 5 | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CBLN1 | cerebellin 1 precursor | 16 | Genetic Association, Functional | 5 | 6 | ||
| CLSTN2 | calsyntenin 2 | 3 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CLSTN3 | Calsyntenin 3 | 12 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| CNR2 | Cannabinoid receptor 2 (macrophage) | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 4 | ||
| CRHR2 | corticotropin releasing hormone receptor 2 | 7 | Functional | 5 | 3 | ||
| CXCR3 | chemokine (C-X-C motif) receptor 3 | X | Rare Single Gene Mutation | 5 | 8 | ||
| DAB1 | disabled homolog 1 (Drosophila) | 1 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| DAPK1 | death-associated protein kinase 1 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 5 | ||
| DCTN5 | dynactin 5 | 16 | Rare Single Gene Mutation | 5 | 3 | ||
| DCUN1D1 | DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) | 3 | Functional | 5 | 3 | ||
| DDX11 | DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 | 12 | Functional | 5 | 3 | ||
| DIAPH3 | Diaphanous-related formin 3 | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 11 | ||
| DNM1L | Dynamin 1-like | 12 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| DOCK10 | Dedicator of cytokinesis 10 | 2 | Rare Single Gene Mutation | 5 | 1 | ||
| DGKK | diacylglycerol kinase kappa | X | Functional | 5 | 1 | ||
| DGKZ | diacylglycerol kinase zeta | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| DLX1 | distal-less homeobox 1 | 2 | Genetic Association | 5 | 8 | ||
| DNAJC19 | DnaJ heat shock protein family (Hsp40) member C19 | 3 | Functional | 5 | 1 | ||
| DVL1 | Dishevelled segment polarity protein 1 | 1 | Functional | 5 | 3 | ||
| EGR2 | early growth response 2 (Krox-20 homolog, Drosophila) | 10 | Functional | 5 | 4 | ||
| EIF4EBP2 | Eukaryotic translation initiation factor 4E binding protein 2 | 10 | Functional | 5 | 1 | ||
| EML1 | echinoderm microtubule associated protein like 1 | 14 | Rare Single Gene Mutation | 5 | 2 | ||
| EPHA6 | EPH receptor A6 | 3 | Rare Single Gene Mutation | 5 | 6 | ||
| EPHB6 | EPH receptor B6 | 7 | Rare Single Gene Mutation | 5 | 5 | ||
| EPS8 | epidermal growth factor receptor pathway substrate 8 | 12 | Functional | 5 | 1 | ||
| ERBB4 | v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) | 2 | Rare Single Gene Mutation | 5 | 15 | ||
| ESR1 | estrogen receptor 1 | 6 | Syndromic, Genetic Association | 5 | 10 | ||
| F13A1 | coagulation factor XIII, A1 polypeptide | 6 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| FABP3 | Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) | 1 | Functional | 5 | 2 | ||
| FAM19A2 | family with sequence similarity 19 member A2, C-C motif chemokine like | 12 | Functional | 5 | 1 | ||
| FAM19A3 | family with sequence similarity 19 member A3, C-C motif chemokine like | 1 | Functional | 5 | 2 | ||
| FGD1 | FYVE, RhoGEF and PH domain containing 1 | X | Rare Single Gene Mutation, Syndromic | 5 | 3 | ||
| FGFBP3 | fibroblast growth factor binding protein 3 | 10 | Rare Single Gene Mutation | 5 | 1 | ||
| FLT1 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) | 13 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| DLGAP4 | DLG associated protein 4 | 20 | Functional | 5 | 2 | ||
| FGFR2 | fibroblast growth factor receptor 2 | 10 | Functional | 5 | 1 | ||
| GABRA1 | Gamma-aminobutyric acid (GABA) A receptor, alpha 1 | 5 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| GABRA5 | gamma-aminobutyric acid type A receptor alpha5 subunit | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 9 | ||
| GABRB1 | gamma-aminobutyric acid (GABA) A receptor, beta 1 | 4 | Rare Single Gene Mutation, Genetic Association | 5 | 6 | ||
| GABRQ | Gamma-aminobutyric acid (GABA) A receptor, theta | X | Rare Single Gene Mutation | 5 | 1 | ||
| GAD1 | Glutamate decarboxylase 1 (brain, 67kDa) | 2 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| GADD45B | Growth arrest and DNA-damage-inducible, beta | 19 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| GAN | Gigaxonin | 16 | Rare Single Gene Mutation | 5 | 1 | ||
| GPR139 | G protein-coupled receptor 139 | 16 | Rare Single Gene Mutation | 5 | 5 | ||
| FOLH1 | folate hydrolase 1 | 11 | Functional | 5 | 2 | ||
| GAP43 | Growth associated protein 43 | 3 | Functional | 5 | 1 | ||
| GRPR | Gastrin-releasing peptide receptor | X | Rare Single Gene Mutation, Genetic Association | 5 | 8 | ||
| GSK3B | Glycogen synthase kinase 3 beta | 3 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| GRM4 | Glutamate receptor, metabotropic 4 | 6 | Functional | 5 | 1 | ||
| H2AFZ | H2A histone family member Z | 4 | Genetic Association, Functional | 5 | 3 | ||
| HDAC3 | histone deacetylase 3 | 5 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| HDC | histidine decarboxylase | 15 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| HOXB1 | homeobox B1 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 8 | ||
| HTR2A | 5-hydroxytryptamine (serotonin) receptor 2A | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| HDAC6 | histone deacetylase 6 | X | Rare Single Gene Mutation | 5 | 6 | ||
| IFNG | interferon gamma | 12 | Functional | 5 | 13 | ||
| IFNGR1 | interferon gamma receptor 1 | 6 | Functional | 5 | 1 | ||
| IL17A | Interleukin 17A | 6 | Functional | 5 | 1 | ||
| IL17RA | interleukin 17 receptor A | 22 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| IL6 | interleukin 6 | 7 | Functional | 5 | 6 | ||
| ITGB7 | integrin, beta 7 | 12 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| JAKMIP1 | Janus kinase and microtubule interacting protein 1 | 4 | Rare Single Gene Mutation, Functional | 5 | 8 | ||
| KCNJ2 | Potassium inwardly-rectifying channel, subfamily J, member 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 3 | ||
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | 9 | Rare Single Gene Mutation, Syndromic | 5 | 11 | ||
| KIF21B | kinesin family member 21B | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| KLC2 | Kinesin light chain 2 | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| ITGA4 | integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) | 2 | Genetic Association | 5 | 5 | ||
| KHDRBS3 | KH RNA binding domain containing, signal transduction associated 3 | 8 | Functional | 5 | 2 | ||
| KIT | KIT proto-oncogene receptor tyrosine kinase | 4 | Syndromic | 5 | 1 | ||
| LAMC3 | laminin, gamma 3 | 9 | Rare Single Gene Mutation | 5 | 9 | ||
| LAT | linker for activation of T-cells | 16 | Functional | 5 | 2 | ||
| MAGED1 | MAGE family member D1 | X | Functional | 5 | 1 | ||
| MAL | mal, T-cell differentiation protein | 2 | Functional | 5 | 2 | ||
| MAP2 | microtubule-associated protein 2 | 2 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MAPK1 | Mitogen-activated protein kinase 1 | 22 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| MAPK8IP2 | Mitogen-activated protein kinase 8 interacting protein 2 | 22 | Functional | 5 | 1 | ||
| KMO | kynurenine 3-monooxygenase | 1 | Functional | 5 | 1 | ||
| LRPPRC | leucine rich pentatricopeptide repeat containing | 2 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| MC4R | Melanocortin 4 receptor | 18 | Functional | 5 | 4 | ||
| MCC | MCC, WNT signaling pathway regulator | 5 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MOCOS | Molybdenum cofactor sulfurase | 18 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | 1 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MYO1A | myosin IA | 12 | Rare Single Gene Mutation | 5 | 7 | ||
| NCKAP5L | NCK-associated protein 5-like | 12 | Rare Single Gene Mutation | 5 | 2 | ||
| NEFL | Neurofilament, light polypeptide | 8 | Rare Single Gene Mutation, Genetic Association | 5 | 2 | ||
| NOS1AP | nitric oxide synthase 1 (neuronal) adaptor protein | 1 | Rare Single Gene Mutation | 5 | 6 | ||
| NOS2 | nitric oxide synthase 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 7 | ||
| MSN | Moesin | X | Functional | 5 | 1 | ||
| MTX2 | Metaxin 2 | 2 | Functional | 5 | 1 | ||
| MYOZ1 | myozenin 1 | 10 | Rare Single Gene Mutation | 5 | 1 | ||
| NR1H2 | nuclear receptor subfamily 1 group H member 2 | 19 | Functional | 5 | 1 | ||
| NRG1 | Neuregulin 1 | 8 | Functional | 5 | 4 | ||
| OPRM1 | opioid receptor, mu 1 | 6 | Functional | 5 | 4 | ||
| P2RX4 | Purinergic receptor P2X, ligand-gated ion channel, 4 | 12 | Functional | 5 | 1 | ||
| PAFAH1B1 | Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | 17 | Functional | 5 | 2 | ||
| OGT | O-linked N-acetylglucosamine (GlcNAc) transferase | X | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| PCDHGA11 | protocadherin gamma subfamily A, 11 | 5 | Rare Single Gene Mutation | 5 | 1 | ||
| PDE4B | phosphodiesterase 4B, cAMP-specific | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 5 | ||
| PDZD4 | PDZ domain containing 4 | X | Rare Single Gene Mutation | 5 | 4 | ||
| PECR | peroxisomal trans-2-enoyl-CoA reductase | 2 | Rare Single Gene Mutation | 5 | 2 | ||
| PGLYRP2 | peptidoglycan recognition protein 2 | 19 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PINX1 | PIN2/TERF1 interacting, telomerase inhibitor 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| PLCD1 | phospholipase C, delta 1 | 3 | Rare Single Gene Mutation | 5 | 9 | ||
| POU3F2 | POU class 3 homeobox 2 | 6 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PPP1R3F | protein phosphatase 1, regulatory (inhibitor) subunit 3F | X | Rare Single Gene Mutation | 5 | 3 | ||
| PSMD10 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 | X | Rare Single Gene Mutation | 5 | 6 | ||
| PTGER3 | prostaglandin E receptor 3 | 1 | Rare Single Gene Mutation | 5 | 1 | ||
| RAC1 | Rac family small GTPase 1 | 7 | Syndromic, Functional | 5 | 5 | ||
| PDE4A | phosphodiesterase 4A | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| RB1CC1 | RB1-inducible coiled-coil 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| RBM8A | RNA binding motif protein 8A | 1 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| RBMS3 | RNA binding motif, single stranded interacting protein 3 | 3 | Rare Single Gene Mutation | 5 | 3 | ||
| PVALB | Parvalbumin | 22 | Functional | 5 | 2 | ||
| RFWD2 | ring finger and WD repeat domain 2 | 1 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| PLPPR4 | phospholipid phosphatase related 4 | 1 | Functional | 5 | 3 | ||
| ROBO1 | roundabout, axon guidance receptor, homolog 1 (Drosophila) | 3 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| RASD1 | ras related dexamethasone induced 1 | 17 | Functional | 5 | 1 | ||
| RPP25 | ribonuclease P and MRP subunit p25 | 15 | Functional | 5 | 1 | ||
| SH3KBP1 | SH3-domain kinase binding protein 1 | X | Rare Single Gene Mutation | 5 | 4 | ||
| SLC16A7 | Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) | 12 | Rare Single Gene Mutation | 5 | 1 | ||
| SLC25A14 | Solute carrier family 25 (mitochondrial carrier, brain), member 14 | X | Functional | 5 | 1 | ||
| SLC25A24 | Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 | 1 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SLC30A3 | solute carrier family 30 member 3 | 2 | Functional | 5 | 2 | ||
| SLC30A5 | solute carrier family 30 | 5 | Rare Single Gene Mutation | 5 | 3 | ||
| SLC33A1 | solute carrier family 33 member 1 | 3 | Functional | 5 | 4 | ||
| SLC35A3 | solute carrier family 35 member A3 | 1 | Rare Single Gene Mutation | 5 | 2 | ||
| SNRPN | small nuclear ribonucleoprotein polypeptide N | 15 | Rare Single Gene Mutation | 5 | 5 | ||
| SRRM4 | Serine/arginine repetitive matrix 4 | 12 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| STAT1 | signal transducer and activator of transcription 1 | 2 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SYN3 | Synapsin III | 22 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SEMA3F | semaphorin 3F | 3 | Functional | 5 | 1 | ||
| SH3RF2 | SH3 domain containing ring finger 2 | 5 | Functional | 5 | 1 | ||
| SLC22A3 | solute carrier family 22 member 3 | 6 | Functional | 5 | 3 | ||
| TBC1D7 | TBC1 domain family member 7 | 6 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| TERT | telomerase reverse transcriptase | 5 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| TNIP2 | TNFAIP3 interacting protein 2 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| TOMM20 | Translocase of outer mitochondrial membrane 20 homolog (yeast) | 1 | Functional | 5 | 1 | ||
| TOP1 | Topoisomerase (DNA) I | 20 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| TSN | translin | 2 | Functional | 5 | 3 | ||
| TYR | tyrosinase | 11 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| UBA6 | Ubiquitin-like modifier activating enzyme 6 | 4 | Functional | 5 | 2 | ||
| UBE3B | ubiquitin protein ligase E3B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 5 | 6 | ||
| UBR7 | ubiquitin protein ligase E3 component n-recognin 7 (putative) | 14 | Rare Single Gene Mutation | 5 | 1 | ||
| UCN3 | urocortin 3 | 10 | Functional | 5 | 1 | ||
| UPB1 | beta-ureidopropionase 1 | 22 | Rare Single Gene Mutation | 5 | 1 | ||
| UPF2 | UPF2, regulator of nonsense mediated mRNA decay | 10 | Rare Single Gene Mutation | 5 | 6 | ||
| TH | tyrosine hydroxylase | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 18 | ||
| VLDLR | Very low density lipoprotein receptor | 9 | Functional | 5 | 3 | ||
| VRK3 | vaccinia related kinase 3 | 19 | Functional | 5 | 1 | ||
| WDR93 | WD repeat domain 93 | 15 | Rare Single Gene Mutation | 5 | 1 | ||
| WNT2 | wingless-type MMTV integration site family member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| ZNF8 | Zinc finger protein 8 | 19 | Rare Single Gene Mutation | 5 | 1 | ||
| VIP | vasoactive intestinal peptide | 6 | Rare Single Gene Mutation, Functional | 5 | 6 |