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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

rps24, nfu1, hadh, chat, ppm1k, wrn, lrmda, polr3a, pitx2, ret, adk, mttp, Tcf/Lef, ttc19, pax2,
fras1, rps14, LOC592559, bicc1, pcdh15, pkd2, ighmbp2, bmpr1b, hgsnat, vps37a, herc2, ahi1, ube3a, sgcb, pou4f3,
alg11, spart, ephx2, LOC585120, asah1, etfdh, rpl21, ofd1, LOC577399, fat4, atrx, dync2h1, inf2, slc16a1, aga,
alg8, nsdhl, gm2a, brca2, agk, nek1, xpnpep3, LOC105444109, coq2, wdr19, asah1, ddx11, tmem165, tgm1, LOC762707,
dkc1, sdhaf2, cask, pcca, rubcn, slc2a1, cog7, atp6ap2, mars2, mccc1, mpdu1, tbc1d24, rnaseh2b, ears2, cog6,
pccb, acadvl, ift80, col4a1, myo7a, tert, atg16l1, ccdc39, bcs1l, wrap53, mpi, alg9, gfm1, anos1, aptx,
cep63, sucla2, pex1, cspp1, otof, lmbrd1, washc5, eya1, gale, tpmt, tfap2a, taf2, ppt1, LOC587274, med23,
klf11, stub1, LOC582974, sox9, abat, dnai2, ap5z1, cox10, dnaaf5, flcn, pgap1, aco2, lmf1, ercc6, uqcrc2,
mettl23, atpaf2, ift140, slc25a38, slc35a1, nog, clcn7, sgsh, abcc6, prpf31, wdr11, nt5c2, ung, smc3, nsd1,
prom1, fgfrl1, fgfr3, hpse2, rnaseh2a, hps1, nhp2, dctn1, gck, letm1, uvssa, gne, serac1, mogs, sufu,
hoga1, mgat2, eif2ak3, nmnat1, cox15, snrnp200, sil1, kif11, ubiad1, agxt, mrps22, slc7a14, nphp4, slc45a2, manba,
sdhb, park7, gch1, pde6d, sco1, ddost, pex5, abcb4, abcb4, epha2, LOC578254, d2hgdh, hspg2, dcaf17, alg3,
cep290, tmem138, tymp, ascl1, LOC100892337, aspm, elovl4, lrp4, pax6, gnptab, pdhx, lrp4, pex16, twnk, sepsecs,
atxn10, flt4, smarcal1, aaas, abcb1, hprt1, phgdh, psmc3ip, eftud2, kars1, pms1, mmut, fbxl4, itga6, rab18,
neurod1, hspd1, LOC373238, pnkd, mmadhc, taco1, vps53, mmab, prpf8, mrpl44, rad51c, pex12, asl, emg1, hfm1,
tufm, gle1, bckdk, ctsd, mks1, rmnd1, slc25a1, tbx1, snap29, trim37, hnf1a, hpd, smarcb1, trappc11, LOC576476,
lztr1, acads, por, LOC583929, rogdi, efnb1, h6pd, vcl, rp2, synj1, gbe1, slc37a4, dnaaf3, cfap298, runx2,
acat1, hlcs, lca5, cep57, abcb7, yars1, pex7, otc, rpgr, fig4, dhdds, LOC752050, cpox, arl13b, mlh1,
sod1, arl6, ldlrap1, msh2, dmd, slc17a5, sptlc1, fancc, ercc4, eif2b2, mmachc, prkcsh, cplane1, dpyd, glis3,
pomgnt1, eif2b3, nek8, urod, exosc3, orc1, LOC581408, npr2, kif2a, clpp, agl, wdr45, slc4a11, cth, tek,
alg6, dbt, ptch1, ercc8, gldc, sptan1, c3, pomt1, dpm2, notch1, lrsam1, slc3a1, abcc2, tsc1, prpf4,
neu1, lmx1b, whrn, alad, ass1, pc, rsph9, bbs1, ush2a, vsx2, tdp1, LOC754546, l2hgdh, opa3, ddhd1,
rnaseh2c, gnmt, dhtkd1, wdr81, lrpprc, ercc2, gphn, spata7, polh, vipas39, npc2, banf1, otx2, coq6, LOC591748,
LOC579215, bckdha, dync1h1, pnpt1, tbce, mgme1, pomt2, selenon, cdan1, xdh, mocs1, six1, lyst, psen1, tbp,
tecpr2, vrk1, iyd, b3galnt2, nphp1, LOC100891460, ap4m1, b4gat1, spast, kptn, opn1lw, sdccag8, bmp2, gatm, gnpat,
dnal1, LOC581885, ap4e1, gli3, slc35c1, epg5, hh, crppa, rab27a, cep152, tti2, kifbp, apc, idh2, psat1,
pklr, bmpr2, mtpap, fech, iqcb1, acad9, gmppb, gata3, cep41, cln3, ebp, tubgcp6, gns, lrrk2, cog5,
cpt2, pqbp1, zmynd10, taz, rab7a, msrb3, abcc9, lyrm7, mtnr1b, fah, agps, porcn, rft1, col2a1, col1a2,
gusb, auh, rxylt1, gatad1, aass, stt3b, ttc21b, ethe1, hsd17b10, smc1a, dag1, slc35a2, phf8, itpr1, pdhb,
kansl1, amt, fancd2, dclre1c, ift122, igbp1, tgfbr2, ext1, wdr35, gata6, ap4b1, colq, lig4, acox1, a2m,
LOC548617, rpl11, drc1, uqcrb, smpd1, stt3a, tsen2, sdha, prpf6, npc1, nphp3, armc4, uqcc2, spag1, dlat,
slc17a5, rad21, gmppa, dna2, LOC585535, ngly1, ccdc103, cps1, tsfm, wnt1, wnt10b, rab3gap1, cdc6, cyc1, LOC594147,
mrpl3, dgat1, arl2bp, pepd, tat, tmem67, rpgrip1l, dpm1, rag1, pign, gcsh, spg7, pigt, ptpn1, ca8,
foxc1, slc52a3.2, slc52a3, ano10, cog4, recql4, hnf4a, ctcf, aprt, lars2, nsun2, nbn, fanca, tbc1d20, LOC581394,
tmem231, slc7a9.4, gnao1, anks6, galns, pnkp, sall1, stx16, galk1, usb1, aars1, ahcy, gnal, afg3l2, phkb,
tk2, cdt1, fars2, c8orf37, snai2, pomgnt2, vps35, orc6, dnah5, dolk, tpm1, vps33b, galt, ndufs4, nr2e3,
aldh7a1, eif2b5, cog1, eef2, amacr, dnai1, ttc37, pts, xpa, mrps16, blm, gba2, atp5f1a, 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):
disease (is_a)