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DOID:630 - genetic disease
Disease Ontology Definition:A disease that has_material_basis_in genetic variations in the human genome.
Synonyms:
Echinobase Genes : smad4, nf1, rsph1, micu1, rps24, chat, wrn, lrmda, pitx2, ret, pax2, fras1, bicc1, pcdh15, pkd2, [+]
hgsnat, vps37a, herc2, ahi1, ube3a, ofd1, fat4, atrx, dync2h1, slc16a1, nek1, xpnpep3, LOC105444109, wdr19, slc2a1,
mccc1, tbc1d24, rnaseh2b, ears2, ift80, col4a1, myo7a, ccdc39, bcs1l, wrap53, cep63, pex1, cspp1, otof, eya1,
tfap2a, klf11, LOC582974, dnai2, dnaaf5, flcn, lmf1, ercc6, ift140, slc35a1, nog, abcc6, wdr11, nt5c2, smc3,
nsd1, fgfrl1, fgfr3, hpse2, rnaseh2a, hps1, nhp2, dctn1, gck, letm1, uvssa, sufu, mgat2, eif2ak3, nmnat1,
sil1, kif11, mrps22, slc7a14, nphp4, slc45a2, park7, pde6d, abcb4, abcb4, LOC578254, hspg2, dcaf17, cep290, tmem138,
ascl1, aspm, elovl4, pax6, twnk, flt4, smarcal1, aaas, psmc3ip, eftud2, kars1, pms1, itga6, rab18, hspd1,
emg1, hfm1, bckdk, mks1, slc25a1, tbx1, snap29, trim37, hnf1a, smarcb1, lztr1, por, LOC583929, rogdi, efnb1,
vcl, slc37a4, dnaaf3, cfap298, runx2, acat1, pex7, rpgr, arl13b, mlh1, sod1, arl6, msh2, dmd, fancc,
ercc4, eif2b2, prkcsh, cplane1, eif2b3, nek8, exosc3, orc1, npr2, clpp, agl, cth, tek, alg6, ptch1,
ercc8, sptan1, c3, notch1, tsc1, lmx1b, whrn, rsph9, bbs1, ush2a, vsx2, LOC754546, rnaseh2c, ercc2, polh,
banf1, otx2, LOC591748, LOC579215, dync1h1, pnpt1, tbce, cdan1, six1, lyst, psen1, iyd, b3galnt2, nphp1, LOC100891460,
b4gat1, sdccag8, gnpat, dnal1, gli3, slc35c1, epg5, crppa, rab27a, cep152, apc, idh2, iqcb1, acad9, gmppb,
gata3, cep41, cln3, ebp, gns, zmynd10, rab7a, msrb3, agps, porcn, col2a1, col1a2, rxylt1, ttc21b, smc1a,
kansl1, dclre1c, ift122, tgfbr2, ext1, wdr35, a2m, LOC548617, rpl11, drc1, nphp3, armc4, spag1, rad21, gmppa,
dna2, ccdc103, wnt10b, rab3gap1, cdc6, arl2bp, pepd, tmem67, rpgrip1l, dpm1, spg7, pigt, foxc1, slc52a3.2, slc52a3,
recql4, hnf4a, ctcf, lars2, nbn, tbc1d20, LOC581394, tmem231, gnao1, anks6, galns, sall1, cdt1, c8orf37, snai2,
pomgnt2, orc6, dnah5, tpm1, galt, nr2e3, aldh7a1, eif2b5, dnai1, xpa, blm, ddx59, rgs9bp, adgrv1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
disease (is_a)