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DOID:0050736 - autosomal dominant disease
Disease Ontology Definition:An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
Synonyms:
Xenbase Genes : tbx1, hba1, c2, gata2, gdf2, fzd4, wnt10a, tcf3, slc24a4, tgfbr1, tnni2, dact1, six3, fga, polg, [+]
fzd6, map2k1, acvr1, mycn, avp, foxc1, app, bmp1, fgfr3, eya1, sufu, cfb, hras, ttr, atp6v1a,
zeb2, mybpc3, aqp5, ace, twist1, tp63, hoxa13, bmpr2, nr2f1, mfn2, paxip1, sox10, hspb1, casp10, gnal,
tgfb2, foxe3, nos3, six1, sox4, apc, sin3a, stat3, tfap2a, smad6, foxc2, aqp2, gdf1, map3k7, f2,
a2m, il1b, gdf5, zfpm2, gli2, bmp2, smad3, runx2, tbl1xr1, pkd2, stat1, csf3r, tubb, tnfrsf11a, ep300,
hoxd13, hnf4a, pitx2, mpo, smarce1, nr2f2, tnnt3, zic2, foxp2, pax3, spred1, bmp4, nr3c2, pparg, six6,
sox18, cd19, pdx1, pkd1, sox11, bmpr1b, rab7a, fgf14, tek, jak2, crb1, gdnf, dvl1, smarca4, pax6,
wnt4, hnf1a, akt2, ihh, acvrl1, tp53, fn1, fgf9, sox2, mip, atp1a1, gli3, akt1, mitf, wt1,
fgf10, gata6, kmt2c, lrp5, ret, hoxd10, otx2, sall4, wnt1, zfhx2, nr5a1, pax4, tgfbr2, bmpr1a, hnf1b,
smad4, nr2e3, hivep2, ins, grhl2, lemd3, hrg, pitx3, c3, mybpc1, foxl2, pax2, tbx5, mef2c, ctnnb1,
syngap1, dnm1l, gdf3, nherf1, snai2, meis2, htra1, nog, csnk2b, nkx2-5, nf1, shh, ifng, ptch1, lyz,
tbp, bicc1, tmpo, rac1, prpf31, rab11a, jup, anln, gsn, lmnb1, ifrd1, cxcr4, creb3l1, kitlg, krt17,
gja5, brca1, smarcc2, actb, tlr3, nfkbia, sall1, pten, eed, yars1, actg1, apbb2, acta1, nefl, dsp,
ppp1r3a, syne2, arid1a, kit, smarcad1, sptb, sh2b3, vim, gja8, col1a2, ttbk2, smarcb1, prph, actn1, hnrnpa1,
gja3, grin1, clcf1, actn4, ripk4, lrp4, fbn2, flnb, lmx1b.1, sgce, des.1, rac2, hnrnpdl, ndufv1, kmt5b,
adnp, tgif1, cux1, apoe, egr2, prom1, chrnb2, dync1h1, nprl2, rtn4ip1, appl1, ppib, prkar1a, plxnd1, ctcf,
ext1, ext2, camk2a, nanos1, camk2b, irf6, ikzf1, prkcg, gja1, col11a2, tgfbr2l, smad6.2, mpz, gal.1, chd7,
epb41l1, mnx1, des.2, lmx1b.2, nefh, atxn2, vim.2, lmna, insr, itpr1, men1, acan, scn4b, gnao1, kirrel3,
kcnma1, cetp, crlf1, b2m, trio, ntrk2, mlxipl, evc2, reep1, opa3, rtn2, atp6v1b2, apoa5, irf1, tor1a,
afg3l2, gfi1b, gna11, rp9, serpinf1, stxbp1, dpf2, edar, hspb8, atl1, atad3a, ppp2r2b, tubb4a, gnas, spast,
stim1, serpini1, snap25, grin2b, plin1, ercc2, chd2, ywhag, por, tbx4, cyp1b1, pnkd, dnajb2, kcnk9, gucy2c,
ppp3ca, elovl5, yap1, plcg2, elovl4, fbn1, wars1, zmpste24, sp7, jph1, unc119, lgi1, scn3b, bdnf, hpd,
myot, gjb2, taok1, cryba1, ezh2, atxn7, bscl2, klf11, sdha, pum1, pth1r, impdh1, kcnc3, dnmt3a, atxn10,
pms1, naa15, rpl15, itgb6, kif1a, gfi1, znf408, cyp11a1, pstpip1, trpm4, zmynd11, atp6v0a2, cpa6, reep2, gch1,
nipa1, slc5a7, bfsp2, tmem43, foxp1, kcne1, rom1, nthl1, ebf3, snta1, apoa1, orai1, cav3.1, gars1, ubiad1,
aars1, ednrb, neurod1, myo1h, rhobtb2, glmn, cryba2, cacng2, dnmt1, rps26, figla, ubtf, rhbdf2, prpf8, rho,
rpl26, rps24, atp2c1, c9, rps19, fbxo38, tubb4b, hspb3, vcp, eef2.1, rps10, nfkb2, sdhb, znf687, rrm2b,
gnb4, cryab, atxn3, slc33a1, klhl7, pura, unc45b, mtap, dnajb6, eftud2, rps23, proc, ufm1, hba2, sec23b,
sdhc, eef1a2, serpinc1, alg10, calm1, rps7, dvl3, msh2, spr, scn1a, gdap1, wfs1, twnk, kif11, habp2,
ikbkg, lbr, rpl21, kif22, hspd1, bfsp1, pros1, dhtkd1, depdc5, nus1, cfh, tsc2, tnrc6a, lmbr1, snrnp200,
gck, atxn1, itga2, scn4a, reln, kcnb1, fbln5, kcnh2, nek1, kcnj13, rhag, cdh15, kif5a, syne2.2, rpl5,
ca4.1, cltc, edaradd, dsg1, zswim6, ank2, nf2, matn3, prph2, irf8, itm2b, klf6, msh6, lhcgr, epcam,
dnm1, sptan1, set, slc4a1, dock8, f5, auts2, tsc1, myt1l, tyr, opa1, nsd1, myh3, p3h1, kcnq5,
sec63, copa, kiss1r, best1, ifitm5, sdhaf2, ppp2r1a, cacna1c, kbtbd13, tshr, kcna2, prdm16, elp4, myh7, evc,
nfix, opn1sw, npr2, cacna1g, bcl11b, slc6a5, comp, tbxas1, crh, lrsam1, clpb, sh3bp2, clcn7, c1r, c1s,
stom, sorl1, chd4, bicd2l, tnfrsf1a, atp1a3, ywhae, prpf3, kcnc1, abcc8, blmh, ganab, suz12, pik3ca, mutyh,
lztr1, tnpo3, pms2, col6a3, col6a1, trpv4, crybb1, dpp6, rpl27, adra2b, ap2s1, phox2b, abca4, rpl11, mtr,
polr1d.1, slc25a4, morc2, cert1, pafah1b1, zbtb18, flcn, f13a1, f12, pmp22, trpa1, serpinh1, slc1a2, piezo2, mthfr,
drd2, atp6v1e1, stag1, sod1, fkbp10, ercc6, rad21, map3k1, sptbn2, thap1, itga2b.1, sparc, glud1, ercc3, polr1c,
crtap, itgb3, polg2, alpl, arid1b, dab1, nfia, kif21a, kcna1, ankh, mme, scn8a, sos1, nrg1, tcf4,
mttp, fan1, tspan12, trpc6, kcnj2, septin9, col12a1, ano3, efemp1, rev3l, nalcn, slc16a12, kcnn4, plcd1, pde4d,
trpv3, ryr1, kif1b, clint1, trps1, cacna1a, chrna2, tenm4, shank3, trpc3, msh3, braf, gtf2h5, slc16a1, calm2,
rad51d, rad51c, kdf1, mipol1, irf2bp2, rpl35a, champ1, rps29, sem1, rps17, plekha1, litaf, dyrk1a, egln1, tbx3,
fgfr2, fgfr1, stat3.2, cyld, ascl1, ccdc88c, ptch2, sox9, ubtf.2, deaf1, gtf2i, cel.2, pbx1, znf238.2, krt12.5,
tinf2, mttp.2, tgfbi, bicd2, pdyn, casq1, slc2a1, myh2, dyrk1a.2, apcdd1, sycp3, chek2, aldh18a1, eef2.2, rit1,
washc5, ehmt1, fam83h, rhagl, scn3a, rapgef2, cav3.2, gabbr2, nprl3, slc6a1, dna2, tuba1cl.3, ank1, mlh1, ahdc1,
setd5, tmem106b, prkcsh, tmem38b, ufsp2, polr1d.2, sdhd, gtf2ird1, nlrc4, asxl3, inf2, col3a1, crybb2, prodh, kcnd3,
cst3, snrpb, tgm6, twist2, dlx3, nop56, sting1, proc.2, tubb3, septin12, setbp1, pacs2, gal.2, nlrp3, irf6.2,
mbd5, sema4a, pomp, sqstm1, kcnj5, kcnq1, snrpe, ccnq, dctn1, specc1l, erbb2, cryaa, gabrg2, col4a2, itga2b.2,
mars1, ca4.2, ano5, cfi, rps27, akap9, myh8, col5a1, syne1, mkrn3, krt12.1, chchd10, kcnt1, chrna4, smad10,
gatad2b, irf7, plekhg4, naglu, prrt2, cacna1b, ttn, col5a2, rp1, slc52a3, tmem240, pde3a, cngb3, ash1l, rtel1,
srcap, kras, scn5a, trpm3, cdk13, camta1, fat2, flna, kcne2, tpm3, notch2, kcnq2, klhl10, gabrb1, piezo1,
ltbp3, hepacam, maf, raf1, bptf, ptpn11, casr, pik3r1, thrb, arid2, trip12, tpm2, samd12, cabp4, kctd1,
kat6a, gnb1, card11, kcnj11, col6a2, cog4, serpind1, clcn1, mafb, nras, pogz, col2a1, col1a1, pacs1, myoc,
hmcn1, crebbp, wac, scn2a, notch3, tert, col4a1, fgd1, brca2, edn3, gdf6, nrl, selenon, ifngr1, ptdss1,
dspp, wnt5a, atn1, mapre2, trdn, plec, epor, tnfaip3, eda, cic, col17a1, brsk2, terc, krt12.6, tcof1,
tlr4, cdkn1b, krt12.2, dnajc5, krt12.4, mmp13, epo, cdh1, blk, rho.2, krt12.3, cryba1.2, col11a1, tuba1a, col7a1,
eng, gabrb2, krt6b
MONDO:0000426 - autosomal dominant disease |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)