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DOID:0050739 - autosomal genetic disease
Disease Ontology Definition:A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms:
| MONDO:0000429 - autosomal genetic disease |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes
:
tbx1,
hba1,
gdf9,
c2,
gdf2,
wnt10a,
slc24a4,
fgg,
tgfbr1,
tnni2,
dact1,
fga,
polg,
fras1,
fzd6,
[+]
hoxc13, acvr1, mycn, foxc1, psmb8, fgfr3, eya1, sufu, slc12a3l, cfb, hras, ttr, zeb2, wnt3, aqp5,
kng1, twist1, lrp1, tp63, hoxa13, mfn2, sox10, cd3g, casp10, tgfb2, foxe3, six1, hoxa1, apc, sin3a,
rarb, tfap2a, foxc2, ghr, kremen1, map3k7, f2, il1b, gdf5, gli2, bmp2, tnxb, smad3, runx2, mfrp,
slc4a11, pkd2, csf3r, tnfrsf11a, cdh3, ep300, hoxd13, fgf5, hnf4a, pitx2, tnnt3, gli1, wnt10b, pax3, ncf2,
bmp4, pparg, six6, hesx1, fgb, sox18, pdx1, pkd1, slc12a5, bmpr1b, dhh, fgf14, tek, jak2, crb1,
dvl1, nppa, pax6, wnt4, hnf1a, mc2r, acvrl1, bves, tp53, slc9a1, sox2, mip, ahsg, sox3, atp1a1,
gli3, spink2, tp53rk, akt1, mitf, wt1, fgf10, gata6, kmt2c, lrp5, ret, hoxd10, otx2, sall4, nr5a1,
pax4, mapkbp1, tgfbr2, bmpr1a, hnf1b, smad4, ins, grhl2, lemd3, lrp2, hrg, pitx3, slc26a3.2, c3, nphp1,
mybpc1, foxl2, pax2, tbx5, gdf3, slc9a3r1, snai2, arnt2, nphp4.2, meis2, htra1, tfrc, nog, nphs1, nphp3,
nf1, tgfb1, ifng, ptch1, tbp, bicc1, zbtb24, smn1, tbce, jup, lmnb1, ifrd1, rab18, cxcr4, cav1,
kitlg, znf423, krt17, gja5, rab27a, prokr2, brca1, tlr3, tubb2b, sall1, pten, ror2, slc25a1, cntn1, lox,
aldh7a1, nefl, dsp, ppp1r3a, adamts2, kit, rax, sh2b3, vim, gja8, col1a2, ttbk2, smarcal1, plk4, cd36,
atrip, atm, actn1, vhl, myo7a, foxi1, gja3, clcf1, asah1, ripk4, ifnar2.1, fbn2, flnb, lmx1b.1, des.1,
hnrnpdl, sumf1, ndufv1, grip1, apoe, erbb3, vps13b, slc24a5, vsx2, prom1, ocln, cftr, hps3, adar, pkhd1,
dync1h1, hps6, slc26a3.1, appl1, ifnar2.2, prkar1a, slc12a3, ext1, ext2, nanos1, neurog3, irf6, prkcg, gja1, tgfbr2l,
intu, mnx1, des.2, wdr19, lmx1b.2, dnah1, tpo, atxn2, vim.2, lmna, insr, itpr1, men1, gnao1, bbs2,
trem2, traip, cetp, crlf1, b2m, gmppb, lrig2, ntrk2, ntrk1, pxdn, vps13d, mlxipl, ctsc, arl6, evc2,
scarf2, agpat2, snap29, hps4, opa3, cdin1, mplkip, aldh3a2, osgep, irf1, nbn, sgcb, cfap300, pepd, fh,
afg3l2, gfi1b, pomt1, tdrd7, stxbp1, edar, gnptg, rnaseh2a, ppp2r2b, spint2, ndufs4, p2ry12, pigp, slc45a2, gnas,
ergic1, stim1, scarb2, gnpat, ggt1, scnn1b, grin2b, xylt1, strc, sgcd, ttc7a, ggcx, ercc2, ikbkb, plpbp,
slc26a4.3, gorab, ywhag, por, tbx4, lpl, kcnk9, bbs4, gucy2c, cenpe, ppp3ca, elovl5, yap1, plcg2, cep63,
cep83, dync2i2, slc19a2, sdccag8, mbtps2, ak7, ca8, elovl4, lama2, pex10, fbn1, nin, zmpste24, tor1aip1, bbs9,
lrmda, foxn1, unc119, grid2, st3gal5, cog8, hpd, myot, uba5, ano10, gjb2, cryba1, lars2, atxn7, synj1,
zap70, sgcg, ndufb9, bscl2, cnnm4, klf11, sdha, adam22, cers3, ush2a, ccdc28b, pum1, pth1r, cdh23, bloc1s6,
kcnc3, mtpap, rogdi, emg1, hadha, pick1, pnpla6, cyba, atxn10, pomgnt1, pms1, dpys, rpl15, ercc5, itgb6,
gfi1, agps, atp6v0a2, ndufs1, slc46a1, bfsp2, uroc1, vps45, adamts10, chsy1, atcay, gtf2e2, nthl1, nsun2, orai1,
cav3.1, ndufv2, ubiad1, tbc1d20.1, orc6, ednrb, ftcd, neurod1, relb, fkrp, lig4, acsf3, gale, cryba2, dnmt1,
epm2a, rps26, bbs5, figla, stub1, rhbdf2, setx, ift122, rho, gmnn, tdp2, aaas, rpl26, thbd, rps24,
cpn1, dhodh, atp2c1, tsga10, ssr4, c9, cfap69, rps19, bbs10, clpp, eef2.1, rps10, ddx11, pex26, sdhb,
cbx2, cog7, cib1, nubpl, cryab, f10, slc25a20.2, atxn3, klhl7, unc45b, mtap, fktn, ddb2, vldlr, dnajb6,
lars1, gle1, eftud2, glrx5, ndufb3, proc, ufm1, b4galt7, snx3, hba2, b3galt6, sec23b, cdc6, lztfl1, sdhc,
ndufs2, iqcb1, serpinc1, mkks, ndufaf5, cdc45, ddx59, mlc1, samhd1, tdo2, cdca7, acat1, rps7, dvl3, pmpca,
msh2, spr, hps1, xpa, gns, wfs1, twnk, bbs1, habp2, ikbkg, lbr, agk, kif22, grm1, bfsp1,
pros1, atrx, lep, slitrk6, scnn1g, fat4, cfh, dync2li1, tbc1d24.1, tsc2, tnrc6a, lmbr1, gck, atxn1, ift52,
blm, itga2, scn4a, reln, fbln5, gfm1, nek1, kcnj13, pcsk1, mab21l2, slc13a5, rhag, brdt, rpl5, edaradd,
snx14, nt5e, gmppa, slc35c1, glis3, fxn, ank2, nf2, trim37, cpamd8, tmem67, wdr35, suox, cib2, pex1,
srd5a3, syt14, irf8, nectin1, klf6, rasgrp2, msh6, lhcgr, epcam, pcdh15, adamtsl4, idua, ercc4, dnm1, sptan1,
cep57, glyctk, ap3b1, f5, kctd7, rab3gap2, tsc1, alms1, enpp1, pank2, itgb2, tyr, cep152, abcb11.2, opa1,
smoc1, nsd1, oca2, myh3, sec63, hpse2, vps13a, whrn, crb2, eif2ak3, ecel1, rubcn, abhd12, dcxr, nek8,
best1, sdhaf2, ift81, cacna1c, dzip1l, xpc, kcna2, sacs, ltbp4, evc, nfix, wrn, aldh1a3, opn1sw, chst3,
cacna1g, xylt2, bcl11b, tbxas1, scn1b, fancm, bckdk, taf4b, sh3bp2, clcn7, cwf19l1, apc2, stom, setd2, rab3gap1,
bicd2l, bbs7, tnfrsf1a, scnn1a, cavin1, inpp5k, ywhae, polh, necap1, atp13a2, kcnc1, abcc8, gp9, kif1c, ganab,
tpp1, slc26a2, ndufs3, khk, recql4, orc1, pik3ca, mutyh, dock7, tnpo3, pms2, mlph, trpv4, crybb1, gm2a,
dpp6, rpl27, adra2b, nup133, ndufaf3, tmprss15, ttc8, ercc8, galns, abca4, rpl11, slc35a1, glb1, lct.2, polr1d.1,
itpa, tyrp1, ift27, nxn, stra6, hexb, gclc, sat1, pafah1b1, flcn, myo5a, f13a1, frem2, rnaseh2b, f12,
pmp22, trpa1, slc1a2, sgsh, piezo2, mthfr, pmfbp1, ctns, nup107, ndufa11, pomt2, ndufaf1, nipal4, ercc6, rad21,
map3k1, ndufa1, sptbn2, st14, pex5, itga2b.1, hadhb, ndufs6, ercc3, polr1c, itgb3, adgrv1, cps1, b3gat3, alpl,
dab1, nfia, hsd17b4, ube3b, f13b, nhlrc1, bub1b, ankh, mme, ifih1, mcm4, slc1a1, pnp, tcf4, mttp.1,
fan1, trim32, lyst, kcnj2, cog1, wdr72, ripk1, orc4, atr, atg5, slc16a12, kcnn4, dcdc2, cenpj, plcd1,
pde4d, trpv3, dse, ngf, lonp1, slc25a13, ap3b2, tgm1, ryr1, efemp2, adamts9, pex13, ush1g, trps1, fermt3,
tcap, cacna1a, trpc3, msh3, braf, rnf216, gtf2h5, bloc1s3, ift80, crppa, cdt1, rad51d, bcs1l, aptx, b4galt1.2,
rad51c, ca12, kdf1, pex7, dag1, pik3r5, pycr1, rpl35a, rps29, aspa, flvcr2, rps17, plekha1, egln1, tbx3,
fgfr2, mc1r, ush1c, fgfr1, cyld, ccdc88c, ptch2, sox9, slc26a2.2, gtf2i, cel.2, krt12.5, invs, ift140, ift172,
mks1, cep290, wwox, slc19a3.2, mttp.2, tprkb, bpnt2, tgfbi, bicd2, pdyn, casq1, dgat1, dync2h1, rnf168, chek2,
aldh18a1, xpnpep3, eef2.2, kcnj10, cth, f7, ehmt1, c12orf57, fam83h, rhagl, polr3b, wdr73, tmc6, dtnbp1, slc25a38,
rapgef2, cav3.2, gabbr2, cplx1, wdpcp, pip5k1c, vkorc1, tbc1d20.2, dna2, gp1bb, rpgrip1l, uvssa, f13bl, mlh1, tent5a,
scyl1, prkcsh, akr1c2, sprtn, ufsp2, polr1d.2, ndufaf4, sdhd, gopc, gtf2ird1, mars2, bbip1, col3a1, crybb2, kcnd3,
traf3ip1, b4galt1.1, cep120, cst3, capn3, snrpb, tgm6, cad, twist2, dlx3, nop56, proc.2, hells, cep78, acad9,
lage3, eral1, cyp4f22, septin12, hfm1, akr1c4, foxred1, sil1, kiaa1109, pacs2, stac3, alox12b, cc2d2a, ift43, nlrp3,
irf6.2, mogs, stat5b, kcnj5, epg5, ccnq, kiaa0586, lct.1, hps5, trappc11, kifbp, trip11, lamb2, specc1l, erbb2,
tonsl, cryaa, hars2, slc29a3, slc25a20, obsl1, jagn1, itga2b.2, ano5, rbbp8, cfi, rps27, pnkp, myh8, col5a1,
esco2, syne1, gnptab, tbc1d24.2, ndufa13, krt12.1, bbs12, anks6, kcnt1, smad4.2, irf7, plekhg4, naglu, ndufaf2, ttn,
col5a2, rp1, slc52a3, tmem240, aloxe3, pde3a, kif7, szt2, p2rx1, cngb3, cep164, atp8a2, srcap, kras, nbeal2,
frmd7, c1orf84, vwa3b, abca12, camta1, fat2, clrn1, plcb1, notch2, kcnq2, adamtsl2, duox2, cyp11b2, cfap44, klhl10,
ttc21b, gabrb1, dchs1, pex6, clcnkb, pdzd7, piezo1, dync2i1, ltbp3, prss56, hepacam, ubr1, maf, raf1, lck,
ptpn11, pik3r1, cntn2, tpm2, tg, samd12, hars1, kctd1, dysf, card11, kcnj11, cog4, serpind1, mafb, nras,
large1, rbm8a, wdr81, col2a1, sgca, col1a1, hmcn1, crebbp, tufm, scn2a, notch3, col4a1, galt, enam, brca2,
edn3, hexa, selenon, plg, ifngr1, cnpy3, ptdss1, wdr4, tmem107, timmdc1, poglut1, nsmce2, prg4, wnt5a, atn1,
plec, epor, il17ra, adamts17, rnaseh2c, eda, pnpla1, c8orf37, cfap43, hspg2, abcc6, col17a1, tex15, arsg, tyrobp,
krt12.6, tcof1, tlr4, cdkn1b, krt12.2, krt12.4, epo, cdh1, glis2, col11a2, ckap2l, blk, rho.2, krt12.3, tctn3,
apoc2, hyls1, slc26a3.3, slc26a4.1, slc26a4.2, cryba1.2, col11a1, col7a1, eng, gabrb2, krt6b, plvap
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
monogenic disease (is_a)