Version: 8.0.0Date: Tue Jan 28 2025
Gene Diseases: autosomal recessive disease
TP53
(Homo sapiens)Gene
Name: tumor protein p53
Synonyms: cellular tumor antigen p53, tumor supressor p53, BCC7, transformation-related protein 53, p53 transformation suppressor, antigen NY-CO-13, mutant tumor protein 53, P53, phosphoprotein p53, p53 antigen, FLJ92943, TRP53, mutant p53 protein, tumor protein 53, tumor suppressor TP53, tumor suppressor p53, LFS1, p53 tumor suppressor, BMFS5, truncated p53 protein
Source: HGNC:11998
Biotype: protein coding gene
ATM
(Homo sapiens)Gene
Name: ATM serine/threonine kinase
Synonyms: serine/threonine kinase ATM, TEL1, telomere maintenance 1, homolog, MGC74674, human phosphatidylinositol 3-kinase homolog, ATDC, truncated ATM serine/threonine kinase, DKFZp781A0353, ATA, AT mutated, ATC, ataxia telangiectasia mutated, ATD, TEL1, ataxia telangiectasia mutated (includes complementation groups A, C and D), ATE, A-T mutated, serine-protein kinase ATM, TELO1, AT1
Source: HGNC:795
Biotype: protein coding gene
BRCA1
(Homo sapiens)Gene
Name: BRCA1 DNA repair associated
Synonyms: RNF53, early onset breast cancer 1, truncated breast and ovarian cancer susceptibility protein 1, truncated breast cancer 1, BRCC1, BRCA1, DNA repair associated, RING finger protein 53, breast and ovarian cancer susceptibility protein 1, BRCA1/BRCA2-containing complex, subunit 1, breast cancer 1, early onset, IRIS, Fanconi anemia, complementation group S, breast cancer type 1 susceptibility protein, BRCAI, PNCA4, PSCP, truncated BRCA1, BROVCA1, protein phosphatase 1, regulatory subunit 53, breast cancer 1, PPP1R53, FANCS
Source: HGNC:1100
Biotype: protein coding gene
ACT1
(Saccharomyces cerevisiae)Gene
Name: ACTin
Synonyms: ABY1, END7, YFL039C
Source: SGD:S000001855
Biotype: protein coding gene
HBB
(Homo sapiens)Gene
Name: hemoglobin subunit beta
Synonyms: hemoglobin, beta, beta-globin, ECYT6, hemoglobin beta chain, hemoglobin beta subunit, CD113t-C, hemoglobin beta chain complex, beta globin chain
Source: HGNC:4827
Biotype: protein coding gene
Trp53
(Mus musculus)Gene
Name: transformation related protein 53
Synonyms: p44, p53
Source: MGI:98834
Biotype: protein coding gene
STAT5B
(Homo sapiens)Gene
Name: signal transducer and activator of transcription 5B
Synonyms: transcription factor STAT5B, STAT5, GHISID2
Source: HGNC:11367
Biotype: protein coding gene
wg
(Drosophila melanogaster)Gene
Name: wingless
Synonyms: fg, flag, Wingless, I, wingless, Dint-1, l(2)rO727, D.int-1, WG, lethal (2) SH1281, l(2)SH1281, l(2)wg, Dwnt-1, dWnt, Glazed, Sternopleural, Wnt, WNT, wgl, Wnt1, glazed, wnt1, spd, Complementation group I, int-1, spade, Dm-1, Wg, Br, Dm Wg, DWint-1, Bristled, DWnt-1, l(2)SH2 1281, l(2)02657, wnt, Wnt-1, CG4889, Sp, Gla
Source: FB:FBgn0284084
Biotype: protein coding gene
Apoe
(Mus musculus)Gene
Name: apolipoprotein E
Synonyms: expressed sequence AI255918, APOEA, AI255918
Source: MGI:88057
Biotype: protein coding gene
H2-K1
(Mus musculus)Gene
Name: histocompatibility 2, K1, K region
Synonyms: RT1-A2n, RT1-CE12, rt1-El, RT1-A, RT1-CE7, RT1-E2, RT1A-1, RT1A-2, RT1-C/E1, RT1-C/E5, RT1.A2(N), RT1-C/E3, RT1-C/E4, RT1.A1(N), RT1-A1n, RT1-C/E7, H-2K
Source: MGI:95904
Biotype: protein coding gene
daf-2
(Caenorhabditis elegans)Gene
Name: abnormal DAuer Formation 2
Synonyms: Y55D5A.5, CELE_Y55D5A.5
Source: WB:WBGene00000898
Biotype: protein coding gene
ss
(Drosophila melanogaster)Gene
Name: spineless
Synonyms: Ss, SS, ssa, Spineless, CG6993, aristapedia, dAHR, AhR, AHR, spineless-aristapedia
Source: FB:FBgn0003513
Biotype: protein coding gene
BRCA2
(Homo sapiens)Gene
Name: BRCA2 DNA repair associated
Synonyms: truncated breast and ovarian cancer susceptibility protein 2, DNA repair-associated BRCA2, FAD1, truncated DNA repair-associated BRCA2, BRCC2, GLM3, BRCA2, DNA repair associated, BRCA1/BRCA2-containing complex, subunit 2, breast cancer type 2 susceptibility protein, breast cancer 2, early onset, breast cancer 2 tumor suppressor, breast and ovarian cancer susceptibility gene, early onset, PNCA2, truncated BRCA2 DNA repair associated, fanconi anemia group D1 protein, truncated breast cancer 2, FAD, mutant BRCA2, breast cancer susceptibility protein BRCA2, FANCB, FANCD, breast and ovarian cancer susceptibility protein 2, mutant DNA repair-associated protein 2, FANCD1, BROVCA2, XRCC11, breast cancer 2, FACD
Source: HGNC:1101
Biotype: protein coding gene
APOE
(Homo sapiens)Gene
Name: apolipoprotein E
Synonyms: LDLCQ5, LPG, apolipoprotein E3, apo-E, ApoE4, MGC1571, Alzheimer disease 2 (APOE*E4-associated, late onset), AD2
Source: HGNC:613
Biotype: protein coding gene
CFTR
(Homo sapiens)Gene
Name: CF transmembrane conductance regulator
Synonyms: CF, ABCC7, cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7), MRP7, CFTR/MRP, cAMP-dependent chloride channel, ATP-binding cassette transporter sub-family C member 7, dJ760C5.1, ATP-binding cassette sub-family C member 7, ABC35, cystic fibrosis transmembrane conductance regulator, TNR-CFTR, cystic fibrosis transmembrane conductance regulating, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Source: HGNC:1884
Biotype: protein coding gene
Hamp
(Rattus norvegicus)Gene
Name: hepcidin antimicrobial peptide
Synonyms: Hepc, hepcidin
Source: RGD:70971
Biotype: protein coding gene
TYR
(Homo sapiens)Gene
Name: tyrosinase
Synonyms: SHEP3, OCA1, tumor rejection antigen AB, LB24-AB, SK29-AB, OCA1A, oculocutaneous albinism IA, CMM8, ATN, OCAIA, monophenol monooxygenase
Source: HGNC:12442
Biotype: protein coding gene
TNF
(Homo sapiens)Gene
Name: tumor necrosis factor
Synonyms: DIF, tumor necrosis factor ligand superfamily member 2, TNF-a, TNF-alpha, tumor necrotic factor alpha, TNLG1F, TNFSF2, tumor necrosis factor-alpha, TNF, monocyte-derived, TNFA, TNF, macrophage-derived, tumor necrosis factor alpha, tumor necrosis factor ligand 1F, IMD127, TNF superfamily, member 2, APC1 protein, cachectin
Source: HGNC:11892
Biotype: protein coding gene
F3
(Homo sapiens)Gene
Name: coagulation factor III, tissue factor
Synonyms: coagulation factor 3, CD142, TF, tissue factor, FLJ17960, thromboplastin, coagulation factor III (thromboplastin, tissue factor), TFA
Source: HGNC:3541
Biotype: protein coding gene
HTRA2
(Homo sapiens)Gene
Name: HtrA serine peptidase 2
Synonyms: serine proteinase OMI, PARK13, Omi stress-regulated endoprotease, protease, serine, 25, serine protease 25, high temperature requirement protein A2, OMI, PRSS25, serine protease HTRA2, mitochondrial, HtrA-like serine protease, MGCA8
Source: HGNC:14348
Biotype: protein coding gene
SNCA
(Homo sapiens)Gene
Name: synuclein alpha
Synonyms: non-A beta component of AD amyloid, PARK1, MGC110988, Parkinson disease (autosomal dominant, Lewy body) 4, synuclein, alpha (non A4 component of amyloid precursor), NACP, truncated alpha synuclein, I+/--synuclein, alpha-synuclein, isoform NACP140, synuclein, alpha, PARK4, alpha-synuclein, synuclein alpha-140, non-A4 component of amyloid, non A-beta component of AD amyloid, PD1
Source: HGNC:11138
Biotype: protein coding gene
aap-1
(Caenorhabditis elegans)Gene
Name: phosphoinositide kinase AdAPter subunit 1
Synonyms: CELE_Y110A7A.10, Y110A7A.10
Source: WB:WBGene00000001
Biotype: protein coding gene
Mpo
(Mus musculus)Gene
Name: myeloperoxidase
Synonyms: Not Available
Source: MGI:97137
Biotype: protein coding gene
fgg
(Danio rerio)Gene
Name: fibrinogen gamma chain
Synonyms: zgc:56023, fb60h05, wu:fb62e01, fb62e01, wu:fb60h05
Source: ZFIN:ZDB-GENE-040426-1998
Biotype: protein coding gene
ERCC5
(Homo sapiens)Gene
Name: ERCC excision repair 5, endonuclease
Synonyms: xeroderma pigmentosum, complementation group G, ERCC5-201, UVDR, ERCM2, xeroderma pigmentosum group G-complementing protein, XPG, COFS3, excision repair protein, excision repair cross-complementing rodent repair deficiency, complementation group 5, DNA repair protein complementing XP-G cells, excision repair cross-complementation group 5, XPG-complementing protein, DNA excision repair protein ERCC-5, XPGC, xeroderma pigmentosum complementation group G protein
Source: HGNC:3437
Biotype: protein coding gene
Tnf
(Mus musculus)Gene
Name: tumor necrosis factor
Synonyms: DIF, tumor necrosis factor-alpha, Tnfa, TNF alpha, TNF-alpha, TNFalpha, tumor necrosis factor, alpha, Tnfsf1a, RATTNF
Source: MGI:104798
Biotype: protein coding gene
crb
(Drosophila melanogaster)Gene
Name: crumbs
Synonyms: Crbs, l(3)07207, CT19912, 0509/20, Crumbs, CG6383, 1384/04, Crb, CRB, crumb, crumbs, far, fat rhabdomere, l(3)S058104, DmCrb, l(3)S050920, lethal (3) 07207, l(3)j1B5, fat rhabdomeres
Source: FB:FBgn0259685
Biotype: protein coding gene
BAT2
(Saccharomyces cerevisiae)Gene
Name: Branched-chain Amino acid Transaminase
Synonyms: ECA40, TWT2, YJR148W
Source: SGD:S000003909
Biotype: protein coding gene
SOD1
(Homo sapiens)Gene
Name: superoxide dismutase 1
Synonyms: Cu/Zn superoxide dismutase, ALS, SOD, superoxide dismutase [Cu-Zn], indophenoloxidase A, HEL-S-44, superoxide dismutase 1, soluble, epididymis secretory protein Li 44, SOD, soluble, STAHP, hSod1, superoxide dismutase, cystolic, superoxide dismutase, ALS1, IPOA, homodimer
Source: HGNC:11179
Biotype: protein coding gene
para
(Drosophila melanogaster)Gene
Name: paralytic
Synonyms: Shudderer, bss, bangsenseless, DmNa[[v]]1, l(1)ESHS48, Paralytic, DmNav, bang senseless, Out cold, olfD, smell-blind, smellblind, Scn1alpha, bas, parabss, DmNav1, voltage-sensitive sodium channel, DmNa, CG9907, para13-5, DmNa[[v]], lincRNA.S9469, par, Shu, sbl-1, VSSC, Para, Nav1, Ocd, Out-cold, paralyzed, voltage gated sodium ion channel, l(1)14Da, sbl, DmNa[[V]], bang-senseless, bang sensitive
Source: FB:FBgn0285944
Biotype: protein coding gene
Tlr4
(Mus musculus)Gene
Name: toll-like receptor 4
Synonyms: lipopolysaccharide response, RAS-like, family 2, locus 8, Rasl2-8, Lps
Source: MGI:96824
Biotype: protein coding gene
Hba-a2
(Mus musculus)Gene
Name: hemoglobin alpha, adult chain 2
Synonyms: alpha 2 globin
Source: MGI:96016
Biotype: protein coding gene
Tgfb1
(Mus musculus)Gene
Name: transforming growth factor, beta 1
Synonyms: Tgfb-1, TGF-beta 1, Tgfb, TGFbeta1, TGF-beta1
Source: MGI:98725
Biotype: protein coding gene
COL1A1
(Homo sapiens)Gene
Name: collagen type I alpha 1 chain
Synonyms: pro-alpha-1 collagen type 1, collagen type I alpha 1, EDSARTH1, collagen of skin, tendon and bone, alpha-1 chain, EDSC, alpha1(I) procollagen, type I procollagen alpha 1 chain, OI1, type I proalpha 1, OI3, OI2, OI4, collagen alpha-1(I) chain, CAFYD, collagen alpha-1(I) chain preproprotein, collagen alpha 1 chain type I, collagen, type I, alpha 1, alpha-1 type I collagen
Source: HGNC:2197
Biotype: protein coding gene
myo-3
(Caenorhabditis elegans)Gene
Name: MYOsin heavy chain structural genes 3
Synonyms: CELE_K12F2.1, K12F2.1, sup-3
Source: WB:WBGene00003515
Biotype: protein coding gene
MIP1
(Saccharomyces cerevisiae)Gene
Name: MItochondrial DNA Polymerase
Synonyms: YOR330C
Source: SGD:S000005857
Biotype: protein coding gene
Col1a1
(Mus musculus)Gene
Name: collagen, type I, alpha 1
Synonyms: Col1a-1, Moloney leukemia virus 13, Cola1, Cola-1, COLIA1, Mov-13
Source: MGI:88467
Biotype: protein coding gene
Cftr
(Mus musculus)Gene
Name: cystic fibrosis transmembrane conductance regulator
Synonyms: Abcc7, expressed sequence AW495489, AW495489, RGD1561193
Source: MGI:88388
Biotype: protein coding gene
Ifng
(Mus musculus)Gene
Name: interferon gamma
Synonyms: If2f, IFN-gamma, IFNG2, Ifg
Source: MGI:107656
Biotype: protein coding gene
Rag2
(Mus musculus)Gene
Name: recombination activating gene 2
Synonyms: Rag-2
Source: MGI:97849
Biotype: protein coding gene
SGS1
(Saccharomyces cerevisiae)Gene
Name: Slow Growth Suppressor
Synonyms: YMR190C
Source: SGD:S000004802
Biotype: protein coding gene
f
(Drosophila melanogaster)Gene
Name: forked
Synonyms: CG12996, CG5424, Forked, CG42864, X1
Source: FB:FBgn0262111
Biotype: protein coding gene
Trf
(Mus musculus)Gene
Name: transferrin
Synonyms: hpx, hypotransferrinemia with hemochromatosis, HP, Tfn, AI266983, expressed sequence AI266983
Source: MGI:98821
Biotype: protein coding gene
Ptgs2
(Mus musculus)Gene
Name: prostaglandin-endoperoxide synthase 2
Synonyms: COX-2, Cox-2, PHS II, Cox2, Pghs2, cyclooxygenase-2, prostaglandin G/H synthase, PHS-2, COX2, PGHS-2, cyclooxygenase 2, Tis10
Source: MGI:97798
Biotype: protein coding gene
Mmp2
(Mus musculus)Gene
Name: matrix metallopeptidase 2
Synonyms: GelA, MMP-2, collagenase IVA, basement membrane, 72 kDa, gelatinase A, Clg4a, 72kDa type IV collagenase, 72kDa gelatinase
Source: MGI:97009
Biotype: protein coding gene
let-23
(Caenorhabditis elegans)Gene
Name: LEThal 23
Synonyms: CELE_ZK1067.1, ZK1067.1, kin-7
Source: WB:WBGene00002299
Biotype: protein coding gene
MTOR
(Homo sapiens)Gene
Name: mechanistic target of rapamycin kinase
Synonyms: mechanistic target of rapamycin, rapamycin target protein 1, rapamycin and FKBP12 target 1, mammalian target of rapamycin, rapamycin associated protein FRAP2, FRAP1, RAFT1, FKBP12-rapamycin complex-associated protein 1, FRAP2, mechanistic target of rapamycin (serine/threonine kinase), FLJ44809, SKS, FRAP, serine/threonine-protein kinase mTOR, RAPT1, FKBP-rapamycin associated protein, FK506 binding protein 12-rapamycin associated protein 1, FK506-binding protein 12-rapamycin complex-associated protein 1, FK506 binding protein 12-rapamycin associated protein 2
Source: HGNC:3942
Biotype: protein coding gene
Cav1
(Mus musculus)Gene
Name: caveolin 1, caveolae protein
Synonyms: Cav-1, caveolin-1, Cav
Source: MGI:102709
Biotype: protein coding gene
H2-Ab1
(Mus musculus)Gene
Name: histocompatibility 2, class II antigen A, beta 1
Synonyms: Bb, expressed sequence AI845868, response to metastatic cancers 1, H-2Ab, RT1.B, H2-Ab, histocompatibility 2, class II antigen A, beta, IAb, Rmcs1, I-region-associated antigen 2, I-A, AI845868, A beta, Abeta, Ia2, I-Abeta, Ia-2
Source: MGI:103070
Biotype: protein coding gene
SOD1
(Saccharomyces cerevisiae)Gene
Name: SuperOxide Dismutase
Synonyms: YJR104C, CRS4
Source: SGD:S000003865
Biotype: protein coding gene