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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 : foxh1.2, 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, tll1, hoxa13, bmpr2, nr2f1, mfn2, paxip1, sox10, hspb1,
actc1, casp10, tjp2, gnal, tgfb2, foxe3, nos3, six1, sox4, spry4, apc, sin3a, fgf8, stat3, tfap2a,
smad6, foxc2, aqp2, gdf1, map3k7, f2, lmx1a, a2m, il1b, gdf5, zfpm2, gli2, bmp2, psen1, smad3,
runx2, tbl1xr1, pkd2, stat1, csf3r, tubb, tnfrsf11a, ep300, hoxd13, timp3, hnf4a, il17rd, pitx2, mpo, smarce1,
nr2f2, tnnt3, tnnt2, zic2, foxp2, pax3, spred1, fgf23.2, bmp4, nr3c2, pparg, six6, tecta.2, sox18, cd19,
pdx1, pkd1, sox11, bmpr1b, rab7a, fgf14, tek, pax8, 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, slc44a4, eya4, tgfbr2, bmpr1a,
hnf1b, smad4, nr2e3, hivep2, ins, tpm1, grhl2, lemd3, hrg, pitx3, esr2, c3, per2, mybpc1, foxl2,
pax2, tbx5, mef2c, ctnnb1, syngap1, dnm1l, gdf3, nherf1, snai2, gata4, meis2, htra1, nog, csnk2b, nkx2-5,
nf1, shh, ifng, ptch1, lyz, tbp, bicc1, tmpo, rac1, actn2, gjb3, prpf31, rab11a, jup, anln,
gsn, lmnb1, ifrd1, cxcr4, creb3l1, kitlg, krt17, gja5, prokr2, brca1, smarcc2, actb, flrt3, tlr3, nfkbia,
tubb2b, tubg1, sall1, pten, eed, yars1, actg1, apbb2, acta1, nefl, dsp, ppp1r3a, syne2, arid1a, kit,
smarcad1, sptb, sh2b3, prok2, vim, nexn, gja8, col1a2, prpf4, ttbk2, flnc, smarcb1, prph, actn1, hnrnpa1,
myo7a, gja3, grin1, clcf1, actn4, ripk4, lrp4, fbn2, flnb, lmx1b, sgce, des.1, rac2, hnrnpdl, cited2,
ndufv1, kmt5b, sftpc, adnp, tgif1, cux1, vsx1, apoe, egr2, pou4f3, prom1, ovol2, chrnb2, dync1h1, nprl2,
rtn4ip1, psen2, osbpl2, appl1, ppib, prkar1a, plxnd1, ctcf, ext1, ext2, camk2a, nanos1, camk2b, diaph3, irf6,
ikzf1, prkcg, gja1, col11a2, tgfbr2l, smad6.2, per3, mpz, gal.1, chd7, epb41l1, mnx1, des.2, lmx1b.2, nefh,
atxn2, fgf23, vim.2, lmna, insr, itpr1, men1, ptprq, acan, scn4b, gnao1, kirrel3, kcnma1, cetp, ldb3,
crlf1, b2m, trio, cdon, ntrk2, ntrk1, mlxipl, evc2, reep1, vps35, opa3, rtn2, atp6v1b2, chmp4b, apoa5,
irf1, tor1a, afg3l2, gfi1b, gna11, rp9, serpinf1, stxbp1, dpf2, edar, hspb8, atl1, atad3a, sptlc2, ppp2r2b,
tubb4a, gnas, spast, stim1, serpini1, snap25, grin2b, plin1, ercc2, chd2, ywhag, por, tbx4, cyp1b1, pnkd,
dnajb2, kif2a, kcnk9, gucy2c, ppp3ca, elovl5, yap1, plcg2, elovl4, hs6st1, fbn1, wars1, zmpste24, sp7, jph1,
unc119, lgi1, scn3b, bdnf, hpd, myot, gjb2, taok1, cryba1, ezh2, atxn7, bscl2, klf11, sdha, pum1,
pth1r, impdh1, kcnc3, dnm2, dnmt3a, atxn10, pms1, naa15, hspa9, rpl15, itgb6, kif1a, hsd11b1, gfi1, znf408,
cyp11a1, pstpip1, trpm4, zmynd11, atp6v0a2, cpa6, pde6b, col8a2, 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, sema3a, figla, ubtf, rhbdf2, prpf8, rho, rpl26, rps24, atp2c1, c9,
rps19, fbxo38, bag3, tubb4b, hspb3, vcp, eef2.1, rps10, nfkb2, sdhb, znf687, rrm2b, gnb4, crym, cryab,
atxn3, slc33a1, klhl7, pura, unc45b, mtap, dnajb6, eftud2, rps23, proc, ufm1, hba2, sec23b, sdhc, eef1a2,
serpinc1, alg10, calm1, chrna1, rps7, dvl3, kif5c, msh2, spr, scn1a, dusp6, gdap1, wfs1, twnk, kif11,
habp2, ikbkg, myo1a, lbr, rpl21, chrne, kif22, hspd1, bfsp1, pros1, dhtkd1, depdc5, nus1, syt2, cfh,
tbc1d24, tsc2, tnrc6a, lmbr1, snrnp200, gck, atxn1, coch, itga2, scn4a, reln, kcnb1, fbln5, kcnh2, nek1,
kcnj13, gsdme, lamb3, rhag, cdh15, kif5a, syne2.2, rpl5, ca4.1, cltc, edaradd, ccdc50, dsg2, dsg1, zswim6,
ank2, nf2, matn3, prph2, irf8, itm2b, klf6, msh6, lhcgr, epcam, dnm1, sptan1, set, slc4a1, tmc1,
dock8, f5, auts2, tsc1, myt1l, tyr, slc17a8, mypn, opa1, nsd1, myh3, p3h1, kcnq5, sec63, gphn,
copa, dcaf8, chrnd, kiss1r, best1, ifitm5, sdhaf2, ppp2r1a, cacna1c, kbtbd13, tshr, kcna2, prdm16, elp4, myh7l,
evc, nfix, opn1sw, npr2, wdr11, cacna1g, bcl11b, slc6a5, comp, pde1c, tbxas1, crh, lrsam1, clpb, sh3bp2,
clcn7, c1r, c1s, stom, grn, sorl1, chd4, bicd2l, tnfrsf1a, atp1a3, nsmf, ywhae, prpf3, kcnc1, abcc8,
blmh, ganab, suz12, prpf6, pik3ca, mutyh, lztr1, tnpo3, pms2, col6a3, col6a1, elmod2, trpv4, crybb1, dpp6,
rpl27, adra2b, ap2s1, mcm2, phox2b, abca4, rpl11, mtr, polr1d.1, slc25a4, morc2, myh9, cert1, tnc, pafah1b1,
gnat1, zbtb18, flcn, dmxl2, f13a1, lama4, f12, pmp22, sptlc1, trpa1, serpinh1, polr1a, slc1a2, piezo2, mthfr,
drd2, atp6v1e1, stag1, sos2, sod1, prx, fkbp10, ercc6, rad21, map3k1, sptbn2, thap1, itga2b.1, sparc, atl3,
glud1, ercc3, myo1c, polr1c, crtap, itgb3, polg2, alpl, arid1b, dab1, nfia, kif21a, kcna1, ankh, mme,
scn8a, sos1, nrg1, tcf4, glrb, mttp, fan1, tspan12, tecta, trpc6, kcnj2, septin9, col12a1, myo6, zfyve27,
ano3, efemp1, rev3l, nalcn, slc16a12, atp2a2, kcnn4, plcd1, pde4d, trpv3, ryr1, kif1b, clint1, trps1, cacna1a,
chrna2, tenm4, shank3, trpc3, msh3, snca, braf, gtf2h5, slc16a1, calm2, rad51d, rad51c, kdf1, mipol1, irf2bp2,
rpl35a, champ1, rps29, sem1, rps17, plekha1, homer2, litaf, dyrk1a, egln1, tbx3, fgfr2, fgfr1, stat3.2, cyld,
ascl1, ccdc88c, ptch2, sox9, foxh1, ubtf.2, deaf1, gtf2i, cel.2, pbx1, znf238.2, krt12.5, tinf2, csnk1d, mttp.2,
tgfbi, bicd2, pdyn, casq1, slc2a1, myh2, dyrk1a.2, kansl1, epha2, apcdd1, sycp3, chek2, aldh18a1, lrrk2, eef2.2,
rit1, washc5, rnf170, crybb3, ehmt1, fam83h, rhagl, scn3a, rapgef2, cav3.2, gabbr2, kcnq4, nprl3, slc6a1, pkp2,
dna2, tuba1cl.3, ank1, mlh1, ahdc1, setd5, tmem106b, prkcsh, tmem38b, ufsp2, polr1d.2, sdhd, gtf2ird1, nlrc4, asxl3,
inf2, col3a1, crybb2, prodh, kcnd3, vamp1, cst3, snrpb, tgm6, twist2, dlx3, nop56, sting1, proc.2, tubb3,
septin12, setbp1, pacs2, gal.2, nlrp3, irf6.2, mbd5, sema4a, pomp, diablo, sqstm1, kcnj5, kcnq1, snrpe, ccnq,
chrna1.2, dctn1, specc1l, erbb2, cryaa, gabrg2, col4a2, itga2b.2, mars1, ca4.2, ano5, cfi, rps27, akap9, myh8,
col5a1, syne1, tbc1d24.2, mkrn3, krt12.1, chchd10, thra, kcnt1, chrna4, smad10, diaph1, gatad2b, irf7, plekhg4, naglu,
prrt2, cacna1b, ttn, col5a2, rp1, slc52a3, tmem240, pde3a, kctd17, cngb3, ash1l, glra1, rtel1, srcap, kras,
scn5a, trpm3, cdk13, camta1, p2rx2, fat2, muc5b, 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, chrnb1, notch3, tert, col4a1, fgd1, enam, brca2, edn3, gdf6, nrl, selenon,
ifngr1, ptdss1, dspp, wnt5a, atn1, mapre2, trdn, plec, epor, tnfaip3, eda, rbm20, cic, col17a1, sftpa1,
myh14, brsk2, terc, krt12.6, tcof1, tlr4, cdkn1b, krt12.2, dnajc5, krt12.4, mmp13, epo, cdh1, blk, rho.2,
krt12.3, cryba1.2, col11a1, tuba1a, cd164, col7a1, eng, gabrb2, hsf4, krt6b, sftpa2
MONDO:0000426 - autosomal dominant disease |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)