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DOID:0050739 - autosomal genetic disease
Disease Ontology Definition:A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms:
Echinobase Genes

pitx2, ret, mttp, pax2, fras1, LOC592559, bicc1, pcdh15, pkd2, ighmbp2, bmpr1b, hgsnat, vps37a, sgcb, pou4f3,
spart, rpl21, LOC577399, fat4, atrx, dync2h1, inf2, slc16a1, gm2a, brca2, agk, nek1, xpnpep3, LOC105444109, wdr19,
ddx11, tgm1, sdhaf2, rubcn, slc2a1, mars2, mccc1, tbc1d24, rnaseh2b, ears2, ift80, col4a1, myo7a, tert, bcs1l,
wrap53, aptx, cep63, sucla2, pex1, otof, washc5, eya1, tpmt, tfap2a, taf2, ppt1, LOC587274, med23, klf11,
stub1, LOC582974, sox9, ap5z1, flcn, pgap1, aco2, lmf1, ercc6, mettl23, ift140, slc25a38, slc35a1, nog, clcn7,
abcc6, prpf31, wdr11, nt5c2, ung, smc3, nsd1, prom1, fgfr3, hpse2, rnaseh2a, hps1, nhp2, dctn1, gck,
uvssa, serac1, sufu, mgat2, eif2ak3, nmnat1, snrnp200, sil1, kif11, ubiad1, mrps22, slc7a14, nphp4, slc45a2, sdhb,
park7, gch1, abcb4, abcb4, epha2, LOC578254, hspg2, dcaf17, cep290, tymp, ascl1, aspm, elovl4, lrp4, gnptab,
lrp4, pex16, twnk, sepsecs, atxn10, flt4, smarcal1, aaas, psmc3ip, eftud2, kars1, pms1, fbxl4, itga6, rab18,
hspd1, LOC373238, pnkd, vps53, prpf8, rad51c, emg1, hfm1, gle1, bckdk, ctsd, slc25a1, tbx1, snap29, trim37,
hnf1a, smarcb1, trappc11, lztr1, por, LOC583929, rogdi, h6pd, synj1, gbe1, slc37a4, runx2, acat1, lca5, cep57,
yars1, pex7, fig4, dhdds, mlh1, sod1, arl6, msh2, sptlc1, fancc, ercc4, eif2b2, prkcsh, glis3, pomgnt1,
eif2b3, nek8, exosc3, orc1, npr2, kif2a, clpp, agl, slc4a11, cth, tek, alg6, ptch1, ercc8, gldc,
sptan1, c3, pomt1, notch1, lrsam1, tsc1, prpf4, lmx1b, whrn, bbs1, ush2a, vsx2, tdp1, LOC754546, opa3,
ddhd1, rnaseh2c, dhtkd1, wdr81, ercc2, gphn, polh, vipas39, banf1, otx2, LOC579215, dync1h1, pnpt1, tbce, mgme1,
pomt2, selenon, cdan1, xdh, six1, lyst, psen1, tbp, tecpr2, vrk1, iyd, b3galnt2, nphp1, LOC100891460, ap4m1,
b4gat1, spast, kptn, sdccag8, bmp2, gatm, gnpat, LOC581885, ap4e1, gli3, slc35c1, epg5, hh, crppa, rab27a,
cep152, tti2, kifbp, apc, idh2, pklr, mtpap, iqcb1, acad9, gmppb, cln3, tubgcp6, gns, lrrk2, rab7a,
msrb3, agps, col2a1, col1a2, auh, rxylt1, gatad1, ttc21b, dag1, itpr1, kansl1, amt, fancd2, dclre1c, ift122,
tgfbr2, ext1, wdr35, gata6, ap4b1, colq, lig4, acox1, a2m, LOC548617, rpl11, tsen2, prpf6, nphp3, gmppa,
dna2, ngly1, cps1, wnt1, wnt10b, rab3gap1, cdc6, LOC594147, dgat1, arl2bp, pepd, dpm1, rag1, pign, gcsh,
spg7, pigt, ca8, foxc1, slc52a3.2, slc52a3, ano10, recql4, hnf4a, ctcf, aprt, lars2, nsun2, nbn, fanca,
tbc1d20, LOC581394, gnao1, anks6, galns, pnkp, sall1, usb1, aars1, gnal, afg3l2, tk2, cdt1, snai2, pomgnt2,
vps35, orc6, tpm1, vps33b, galt, nr2e3, aldh7a1, eif2b5, eef2, ttc37, pts, xpa, blm, gba2, ddx59,
rgs9bp, adgrv1, fan1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a)