|
DOID:0050177 - monogenic disease
Disease Ontology Definition:A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
Synonyms:
Xenbase Genes : foxh1.2, tbx1, hba1, gdf9, c2, gata2, gdf2, fzd4, suclg1, wnt10a, tcf3, slc24a4, fgg, pygl, crx, [+]
tgfbr1, tnni2, dact1, prkcd, six3, fga, polg, fras1, fzd6, map2k1, hoxc13, acvr1, mycn, avp, foxc1,
psmb8, app, bmp1, fgfr3, eya1, sufu, bmp15, ms4a1, slc12a3l, cfb, hras, ttr, aicda, atp6v1a, zeb2,
wnt3, mybpc3, pou3f4, aqp5, ace, kng1, twist1, lrp1, tp63, slc12a1, tll1, hoxa13, bmpr2, nr2f1, tnik,
mfn2, il6, paxip1, il12b, sox10, hspb1, actc1, cd3g, casp10, tjp2, tf, tnnc1, gnal, tgfb2, foxe3,
nos3, six1, sox4, hoxa1, spry4, rasa2, apc, sin3a, rps6ka3, fgf8, rarb, psmb9, stat3, rorc, tfap2a,
met, smad6, foxc2, aqp2, gdf1, ghr, kremen1, map3k7, f2, lmx1a, tnnt1, tnfsf11, a2m, il1b, gdf5,
zfpm2, gli2, bmp2, tnxb, il7r, psen1, smad3, runx2, mfrp, tbl1xr1, slc4a11, pkd2, stat1, csf3r, tubb,
tnfrsf11a, cdh3, ep300, hoxd13, fgf5, timp3, hnf4a, il17rd, pitx2, mpo, smarce1, nr2f2, tnnt3, tnnt2, gli1,
zic2, wnt10b, foxp2, pax3, spred1, prickle2, ncf2, fgf23.2, bmp4, nr3c2, pparg, six6, tecta.2, hesx1, fgb,
sox18, il1rapl1, cd19, pdx1, pkd1, sox11, slc12a5, bmpr1b, dhh, esrrb, rab7a, fgf14, tek, pax8, jak2,
crb1, gdnf, dvl1, arx, kcnj1, smarca4, nppa, pax6, wnt4, hnf1a, mc2r, akt2, ihh, acvrl1, bves,
tp53, slc9a1, ca2, fn1, fgf9, sox2, mip, zeb1, fshb, ezr, ahsg, sox3, atp1a1, gli3, spink2,
tp53rk, akt1, mitf, wt1, mmp1, fgf10, gata6, kmt2c, lrp5, ret, hoxd10, otx2, sall4, wnt1, zfhx2,
nr5a1, pax4, tshb, slc44a4, eya4, mapkbp1, tgfbr2, bmpr1a, hnf1b, smad4, ifngr2.1, nr2e3, hivep2, ins, tpm1,
grhl2, lemd3, lrp2, lhb, hrg, pitx3, skic2, slc26a3.2, esr2, c3, nphp1, per2, mybpc1, slc5a5, hes7.2,
vdr, slc6a2, foxl2, pax2, tbx5, prickle1, mef2c, tnni3, ctnnb1, syngap1, dnm1l, gdf3, nherf1, snai2, arnt2,
gata4, nphp4.2, meis2, htra1, tfrc, nog, slc9a7, casp8, nphs1, nphp3, csnk2b, nr1h4, nr0b1, nkx2-5, lfng,
nf1, shh, tgfb1, ifng, trac, ptch1, lyz, tbp, bicc1, sh3tc2, zbtb24, tmpo, rac1, actn2, smn1,
tbce, gjb3, prpf31, rab11a, jup, anln, mras, gsn, lmnb1, ifrd1, rab18, cxcr4, creb3l1, itga6, cav1,
smpx, atp8b1, kitlg, znf423, il21r, krt17, arpc1b, lmnb2, gja5, rab27a, prokr2, tubgcp6, brca1, gcnt2.2, smarcc2,
cnksr2, actb, ror1, flrt3, mak, tlr3, igbp1, nfkbia, tubb2b, tubg1, rab33b, sall1, pten, eed, ror2,
ak2, yars1, actg1, pon2, slc25a1, tubgcp4, cntn1, apbb2, malt1, hpca, acta1, lox, megf10, aldh7a1, rlim,
nefl, dsp, ppp1r3a, adamts2, syne2, brip1, triobp, arid1a, kit, trpm1, myo15a, rax, smarcad1, sptb, sh2b3,
prok2, vim, nexn, mertk, gja8, col1a2, prpf4, ttbk2, smarcal1, tbcd, fgd4, il10rb, rab39b, flnc, smarcb1,
plk4, cd36, atrip, atm, prph, mrps2, gfpt1, actn1, hnrnpa1, vhl, myo7a, foxi1, gja3, grin1, clcf1,
kptn, actn4, asah1, ripk4, rax2, trit1, lrp4, alg2, ifnar2.1, fbn2, prkdc, flnb, mecp2, lmx1b, smarca5,
sgce, des.1, rac2, hnrnpdl, cited2, sumf1, ndufv1, fus, flrt1, gyg1, kmt5b, sftpc, ndp, adnp, dmd.2,
tusc3, mmp20, alx4, grip1, tgif1, dlx5, cux1, alx1, vsx1, apoe, cp, nipbl, egr2, erbb3, vps13b,
pou4f3, slc24a5, vsx2, ambn, prom1, phox2a, ocln, cftr, hps3, ovol2, chrnb2, adar, pkhd1, cd247, dync1h1,
hps6, nprl2, prdm5, rtn4ip1, hycc1, psen2, ifngr2.2, osbpl2, slc26a3.1, appl1, ifnar2.2, cox6a1, ppib, kdm5b, prkar1a,
plxnd1, ctcf, slc12a3, ext1, ext2, camk2a, nanos1, camk2b, diaph3, neurog3, irf6, hes7.1, myo18b, ikzf1, prkcg,
gja1, col11a2, tgfbr2l, smad6.2, per3, mpz, gal.1, wnk1, serpinf2, tmie, erbb4, chd7, fastkd2, trmt10c, epb41l1,
cd3e, intu, mnx1, rbm28, des.2, wdr19, lmx1b.2, nefh, dnah1, tpo, atxn2, fgf23, vim.2, pla2g6, lmna,
insr, shox, itpr1, men1, porcn, ptprq, acan, scn4b, gnao1, aipl1, bbs2, lingo1, agtr2, slc37a4, trem2,
kirrel3, traip, kcnma1, cetp, ldb3, axl, crlf1, b2m, cd79a, trio, vps11, als2, gmppb, cdon, lrig2,
ntrk2, sema3e, ntrk1, musk, ppt1, elac2, pxdn, vps13d, slc18a2, tnfrsf11b, hcn4, kcnv2, mlxipl, ctsc, arl6,
evc2, chrm3, sco2, reep1, prkra, scarf2, antxr2, agpat2, st3gal3, vps35, zc4h2, snap29, hps4, f9, opa3,
rtn2, atp6v1b2, tspan7, ap4s1, cdin1, chmp4b, apoa5, ube2t, spata7, snx10, mplkip, trim2, cyp27b1, aldh3a2, rgs4,
ncf4, osgep, irf1, nbn, sgcb, txn2, arl2bp, cfap300, kars1, optn, tor1a, syp, pepd, fh, rnaset2,
afg3l2, gfi1b, pomt1, gna11, lyrm4, fars2, atp5f1a, nars2, tdrd7, cog6, hk1, rp9, serpinf1, entpd1, stxbp1,
dpf2, pde6g, edar, mrpl3, colec10, hspb8, atl1, gnptg, rnaseh2a, brf1, atad3a, sptlc2, cd81, rspo2, ppp2r2b,
pgap3, spint2, dcps, tubb4a, ndufs4, p2ry12, stxbp2, pigp, slc45a2, gnas, spast, ergic1, stim1, scarb2, folr1,
bsnd, gnpat, serpini1, pgm1, cnga3, bcl10, usb1, snap25, chmp2b, zdhhc15, tango2, ggt1, scnn1b, ap4b1, grin2b,
gpsm2, grm6, xylt1, plin1, strc, sgcd, ttc7a, ggcx, arhgef6, ercc2, ikbkb, clcn4, mpzl2, plpbp, erlin2,
cog5, slc26a4.3, tdp1, chd2, sag, adcy1, lrba, gorab, ywhag, por, tbx4, cyp1b1, pnkd, dnajb2, lpl,
pigc, kif2a, stx11, kcnk9, aff2, bbs4, gucy2c, cenpe, ppp3ca, elovl5, yap1, plcg2, dpagt1, colec11, slmap,
cep63, sucla2, cln8, dclre1c, cep83, nrxn1, lipa, dync2i2, slc19a2, sdccag8, micu1, mbtps2, sms, ak7, fbxo31,
ca8, prdm12, elovl4, abcb1, hs6st1, lama2, agrn, pex10, fbn1, wars1, nin, zmpste24, sp7, neb, galnt3,
tor1aip1, bbs9, cox10, jph1, lrmda, foxn1, unc119, lgi1, pex3, grid2, ndst1, st3gal5, pygm, slc45a1, scn3b,
tbk1, cog8, bdnf, hpd, myot, uba5, ano10, gjb2, rars1, taok1, cryba1, lars2, ezh2, cntnap2, atxn7,
synj1, ripply2.1, znf711, zap70, sgcg, ndufb9, bscl2, cnnm4, gnb3, xdh, klf11, sdha, adam22, lins1, cers3,
ush2a, col25a1.1, ccdc28b, pum1, ctps1, pth1r, impdh1, trmt5, smc3, cdh23, huwe1, itk, bloc1s6, mre11, clic5,
kcnc3, aimp1, mtpap, anxa11, agbl5, wars2, rogdi, emg1, hadha, dnm2, cyb5a, pick1, pnpla6, cyba, aldh4a1,
dnmt3a, atxn10, pomgnt1, pms1, dpys, cln5, naa15, ung, hspa9, rpl15, gnrh1, ercc5, itgb6, kif1a, hsd11b1,
b4galnt1, gfi1, tfg, espn, znf408, cdc14a, slc12a6, pign, cyp11a1, pstpip1, agps, wipf1, trpm4, zmynd11, atp6v0a2,
cpa6, pde6b, col8a2, ndufs1, reep2, ddhd1, gch1, rp2, nipa1, eif2b3, slc46a1, fbxl4, slc5a7, bfsp2, tmem43,
uroc1, vps45, adamts10, foxp1, pak3, chsy1, exosc8, sepsecs, atcay, kcne1, cacnb2, gtf2e2, rom1, cog2, las1l,
nthl1, ebf3, snta1, apoa1, nsun2, orai1, cav3.1, auh, dph1, ndufv2, gars1, pigl, ubiad1, tbc1d20, aars1,
orc6, cul4b, ednrb, ccnf, ftcd, neurod1, myo1h, abcg5, ngly1, g6pc1, relb, fhl1, fkrp, ddhd2, rhobtb2,
atp6ap2, slc6a17, lig4, cidec, acsf3, tsfm, glmn, gale, slc18a3, cryba2, fmo3, cacng2, dnmt1, epm2a, rps26,
gatad1, bbs5, pigv, ogt, naa10, sema3a, figla, dolk, strada, ubtf, stub1, rhbdf2, eprs1, prpf8, setx,
ift122, rho, exosc3, gmnn, tdp2, alg8, hikeshi, aaas, rpl26, pnpt1, mccc1, eif2ak4, thbd, ccn6, rps24,
cpn1, tmem126a, dhodh, atp2c1, tsga10, ssr4, taf2, qdpr, c9, rpe65, cfap69, myh6, rps19, xrcc1, klhl40,
gjc2, sars1, fbxo38, bbs10, tsen54, ube2a, bag3, vps37a, clpp, tubb4b, hspb3, vcp, eef2.1, rps10, stt3b,
gpd1l, ddx11, pex26, ap4m1, mpc1, nfkb2, cfap410, sdhb, cbx2, znf687, rrm2b, gnb4, crym, cog7, ears2,
cib1, nubpl, cryab, dstyk, f10, slc25a20l, atxn3, slc33a1, klhl7, pura, unc45b, mtap, fktn, ddb2, vldlr,
tmem165, dnajb6, eif2b1, lars1, pcna, gle1, smc1a, eftud2, rps23, glrx5, ndufb3, proc, ufm1, c1qbp, nhp2,
b4galt7, snx3, pex19, mpi, stt3a, pomgnt2, far1, hba2, crbn, eif2b2, b3galt6, tardbp, gatm, coa8, mrps7,
sec23b, cdc6, lztfl1, sdhc, iyd, ndufs2, iqcb1, eef1a2, pcbd1, serpinc1, dnajc6, vac14, mkks, ndufaf5, cdc45,
dao, ddx59, mlc1, alg10, arl6ip1, gpc4, samhd1, gss, pigw, cars2, dpm1, calm1, tdo2, fmr1, chrna1,
cdca7, dlg3, acat1, rps7, dvl3, pmpca, kif5c, msh2, g6pc3, nans, spr, gnb5, hps1, xpa, scn1a,
fancl, dusp6, gdap1, dlg5, atp5f1d, gns, mgat2, lim2, wfs1, mboat7, mtfmt, twnk, kif11, bbs1, habp2,
ikbkg, myo1a, lbr, ccdc22, rpl21, chrne, agk, bin1, kif22, hspd1, grm1, cngb1, bfsp1, gbe1, pros1,
thoc2, atrx, slc16a2, dhtkd1, lep, depdc5, slitrk6, scnn1g, fat4, nus1, pln, syt2, ptprc, cfh, fanci,
vps33b, lmf1, abcg8, dync2li1, tbc1d24, tsc2, tnrc6a, slx4, lmbr1, snrnp200, gck, gpc3, atxn1, btd, rpgr,
coch, ift52, blm, cln6, bola3, ampd2, itga2, scn4a, reln, retreg1, slc6a3, kcnb1, zc3h14, fbln5, gfm1,
kcnh2, nek1, kcnj13, gsdme, pcsk1, cast, mab21l2, lamb3, slc13a5, rhag, matr3, tk2, cdh15, kif5a, syne2.2,
atf6, tsen15, ddr2, brdt, rpl5, impg2, ca4.1, cltc, edaradd, chat, snx14, nt5e, gmppa, prdm8, hgsnat,
pomk, kl, masp1, ccdc50, slc35c1, dsg2, dsg1, lama3, glis3, fxn, zswim6, fancd2, prss12, ank2, nf2,
trim37, cpamd8, kdsr, esrp1, tmem67, matn3, wdr35, suox, itga7, stat2, znf592, cib2, pex1, map3k20, srd5a3,
prph2, syt14, tacr3, nfkb1, mccc2, cilk1, med12, irf8, fezf1, fancc, hsd17b3, nectin1, ky, itm2b, alg3,
eif2b5, klf6, eif2s3, antxr1, rasgrp2, msh6, lhcgr, epcam, pcdh15, papss2, adamtsl4, idua, ercc4, dnm1, sptan1,
set, hsd17b10, tgm5, slc4a1, g6pc3.2, taco1, nags, cep57, tmc1, dock8, glyctk, ap3b1, f5, chst8, auts2,
kctd7, meiob, cd2ap, rab3gap2, adgrg2, tsc1, alms1, myt1l, enpp1, gtpbp3, ap4e1, pank2, lipe, myo5b, itgb2,
tyr, h6pd, cep152, abcb11.2, nt5c2, slc17a8, mypn, atoh7, opa1, smoc1, nsd1, oca2, myh3, p3h1, ank3,
kcnq5, sec63, ostm1, hpse2, cox15, vps13a, gphn, whrn, crb2, copa, dcaf8, eif2ak3, ecel1, chrnd, rubcn,
chrng, kynu, lamc2, kiss1r, gpx4, abhd12, capn1, eps8l2, dcxr, nek8, best1, ifitm5, sdhaf2, ift81, dock2,
dgke, spart, ppp2r1a, rdx, rapsn, cacna1c, dzip1l, xpc, slc24a1, kbtbd13, slc25a26, tshr, ocrl, kcna2, pgm3,
prdm16, sacs, isca2, elp4, ltbp4, vipas39, myh7, evc, nfix, wrn, aldh1a3, exosc9, iba57, opn1sw, pex14,
npr2, ndrg1, chst3, wdr11, rtf1, nmnat1, cacna1g, xylt2, phf8, cstb, bcl11b, tyk2, slc6a5, wbp2, sra1,
gpr179, rusc2, comp, pde1c, upf3b, ferry3, tbxas1, fbxo7, tbx22, tmprss3, scn1b, fancm, crh, phkg2, cers1,
bckdk, lrsam1, clpb, ildr1, taf4b, sh3bp2, clcn7, cwf19l1, apc2, c1r, c1s, stom, setd2, rab3gap1, cldn14,
grn, sorl1, chd4, bicd2l, tymp, bbs7, tnfrsf1a, scnn1a, cavin1, atp1a3, nsmf, inpp5k, ywhae, polh, coasy,
prpf3, tars2, necap1, atp13a2, kcnc1, abcc8, eps8, gp9, kif1c, blmh, ganab, cln3, tpp1, slc26a2, suz12,
ndufs3, khk, prpf6, eif2b4, recql4, orc1, pik3ca, mutyh, dock7, katnb1, lztr1, magt1, tnpo3, irf5, aimp2,
pms2, col6a3, mlph, col6a1, elmod2, mfsd8, trpv4, crybb1, cryba4, pmm2, ncf1, gm2a, mrps34, dpp6, rpl27,
adra2b, nup133, lman2l, elmod3, phf6, ap2s1, tti2, sec23a, ndufaf3, mcm2, tmprss15, hgf, pmpcb, slc26a5, yme1l1,
ttc8, mrpl44, mrps22, ppip5k2, phox2b, uchl1, lrat, ercc8, pola1, galns, fanca, pfkm, aco2, abca4, rpl11,
mtr, slc35a1, hnmt, glb1, lct.2, polr1d.1, pcyt1a, agl, itpa, tyrp1, ift27, slc25a4, morc2, nop10, gemin4,
nxn, serpinb6, hmgb3, stra6, slc25a12, dhdds, rd3, myh9, hexb, cert1, dst, gclc, nono, klhl15, sat1,
tnc, pafah1b1, nfu1, cfl2, tecr, parn, bgn, dpm2, gnat1, zbtb18, coa6, flcn, top3a, gne, vrk1,
lca5, med23, micos13, dmxl2, myo5a, f13a1, impa1, frem2, rnaseh2b, sbf2, lama4, f12, pmp22, sptlc1, trpa1,
zfyve26, serpinh1, polr1a, slc1a2, sgsh, park7, piezo2, mthfr, pmfbp1, xk, myo1e.1, nde1, drd2, dguok, atp6v1e1,
stag1, sos2, otof, ap1s2, ctns, alg1, sod1, nup107, ndufa11, mipep, prx, pomt2, fkbp10, hadh, cyp2u1,
b4gat1, mecr, ndufaf1, nipal4, ercc6, rpgrip1, unc13d, acox1, rad21, med17, map3k1, ndufa1, mgme1, prps1, sptbn2,
thap1, st14, sh3pxd2b, pex5, rxylt1, itga2b.1, sparc, hadhb, atl3, glud1, ndufs6, c4h19orf12, ercc3, myo1c, polr1c,
crtap, itgb3, polg2, adgrv1, ufc1, csrp3, cps1, b3gat3, cdk5, emc1, alpl, arid1b, slc7a14, dab1, nfia,
hsd17b4, gria3, ube3b, f13b, trmu, kif21a, kcna1, ogdh, nhlrc1, usp9x, bcor, bub1b, lamb1, ankh, mme,
ifih1, atg16l1, scn8a, ofd1, sos1, nrg1, pex16, mcm4, slc1a1, pnp, vps53, rgs9bp, tcf4, glrb, slc39a8,
mttp, efnb1, fan1, tmem231, tspan12, tecta, rnaseh1, trim32, lrrc8a, trpc6, lyst, b3galnt2, kcnj2, cog1, septin9,
col12a1, myo6, wdr72, ripk1, zfyve27, ano3, orc4, mid2, efemp1, rev3l, grk1, herc2, nalcn, atr, polr3a,
atg5, slc16a12, atp2a2, clip1, kcnn4, dcdc2, cenpj, plcd1, gan, pde4d, trpv3, dse, ngf, lonp1, slc25a13,
ap3b2, sts, tgm1, ryr1, efemp2, adamts9, sbf1, pex13, kif1b, ush1g, clint1, itgb4, trps1, fermt3, tcap,
cacna1a, cdan1, lgi4, chrna2, tenm4, cyp2r1, shank3, trpc3, msh3, gucy2d, snca, braf, rnf216, gtf2h5, fa2h,
slc16a1, calm2, bloc1s3, cask, pigt, ift80, crppa, cdt1, rad51d, pex12, bcs1l, ift74, aptx, b4galt1.2, rft1,
rad51c, ca12, kdf1, mipol1, irf2bp2, pex7, dag1, pik3r5, pycr1, rpl35a, champ1, rps29, aspa, flvcr2, sem1,
rps17, gcdh, plekha1, pex2, homer2, zdhhc9, litaf, dyrk1a, egln1, rag2, tbx3, fgfr2, mc1r, ush1c, fgfr1,
f8, stat3.2, cyld, ascl1, kdm5c, fance, ccdc88c, ptch2, sox9, foxh1, slc26a2.2, ubtf.2, deaf1, gtf2i, cel.2,
pbx1, znf238.2, krt12.5, invs, ift140, ift172, mks1, cep290, prf1, wwox, tcirg1, dym, tinf2, slc19a3.2, tulp1,
rbmx, csnk1d, lhfpl5, lmod3, mttp.2, banf1, pfn1, tprkb, sugct, bpnt2, tgfbi, bicd2, elp2, pdyn, gnrhr,
casq1, slc2a1, cradd.2, brwd3, vcl, was, myh2, dyrk1a.2, kansl1, epha2, dgat1, dync2h1, apcdd1, sycp3, rnf168,
chek2, g6pc1.2, aldh18a1, slc38a8, lrrk2, xpnpep3, eef2.2, coa5, rit1, kcnj10, alg12, washc5, pigy, pet100, cth,
ddost, taf13, sigmar1, lss, f7, rnf170, tbc1d32, crybb3, ehmt1, erlin1, fancf, c7h12orf57, fam83h, rhagl, ftsj1,
cc2d1a, gba2, polr3b, mrps16, steep1, wdr73, otoa, tmc6, dtnbp1, scn3a, rsrc1, dmd, dmd, slc25a38, rapgef2,
cav3.2, gabbr2, cplx1, kcnq4, pgap1, nprl3, wdpcp, fam161a, pip5k1c, slc6a1, vkorc1, mtrr, stx3, pkp2, tbc1d20.2,
tecpr2, dna2, gp1bb, med25, rpgrip1l, naga, uvssa, tuba1cl.3, f13bl, ank1, mlh1, ahdc1, marveld2, tmem199, gins1,
dnajc19, setd5, tent5a, scyl1, tmem106b, prkcsh, akr1c2, trappc9, sprtn, liph, aprt, tmem38b, ufsp2, klhl41, cradd.1,
polr1d.2, ndufaf4, sdhd, gopc, gtf2ird1, nlrc4, asxl3, slc22a4, mars2, inf2, hdac8, bbip1, col3a1, crybb2, prodh,
palb2, kcnd3, spg11, gosr2, vamp1, traf3ip1, c1h9orf72, b4galt1.1, cep120, nhs, cst3, man1b1, hdac6, capn3, ctsf,
ctsk, snrpb, tgm6, cad, twist2, dlx3, nop56, sting1, proc.2, hells, tmtc3, ddr2l, cep78, acad9, tubb3,
lage3, kcne3, eral1, cyp4f22, edc3, kiz, tdrd9, tbc1d23, septin12, hfm1, ercc1, akr1c4, foxred1, cyp7b1, sil1,
setbp1, rras2, wnt7a, bltp1, pacs2, stac3, ctsd, tsen2, gdi1, alox12b, cc2d2a, ift43, arhgef2, chuk, gal.2,
hax1, nlrp3, pex11b, irf6.2, mogs, stat5b, myo1e.2, mbd5, washc4, sema4a, pomp, diablo, vti1a, pklr, sqstm1,
kcnj5, epg5, kcnq1, snrpe, ccnq, add3, skic3, KIAA0586, lct.1, hps5, trappc11, chrna1.2, kif4a, tsen34, dctn1,
alg11, kifbp, trip11, lamb2, rgs9bpl, specc1l, erbb2, tonsl, znf674, cryaa, hars2, slc29a3, fam20a, a2ml1, slc25a20,
pigo, cox6b1, obsl1, wrap53, jagn1, gabrg2, shroom4, col4a2, itga2b.2, mars1, ca4.2, ano5, rbbp8, cfi, rps27,
chkb, akap9, pnkp, myh8, col5a1, esco2, fmn2, rgs9, syne1, gnptab, tbc1d24.2, mkrn3, ndufa13, krt12.1, chchd10,
bbs12, fancg, cd40, ripor2, tex14, thra, acsl4, col25a1.2, anks6, cisd2, kcnt1, chrna4, smad10, diaph1, gatad2b,
irf7, plekhg4, naglu, tmem132e, prrt2, cacna1b, ndufaf2, ttn, col5a2, myo3a, rp1, slc52a3, tmem240, aloxe3, pde3a,
plekhm1, colq, spg7, col4a6, ap5z1, mettl23, kif7, cerkl, p2rx1, rmnd1, kctd17, cngb3, ash1l, cep164, iqsec2,
glra1, rtel1, atp8a2, srcap, alg9, kras, scn5a, dok7, s1pr2, trpm3, gpc6, msrb3, sardh, nbeal2, plekhg5,
cdk13, cox20, frmd7, pjvk, znf81, serac1, szt2, vwa3b, adgrg1, col4a5, nexmif, abca12, grxcr1, camta1, p2rx2,
vps13c, dcaf17, fat2, mtmr2, muc5b, clrn1, flna, kcne2, plcb1, vars2, tpm3, gipc3, notch2, fig4, kcnq2,
adamtsl2, duox2, cyp11b2, cfap44, klhl10, pts, ttc21b, slc9a6, gabrb1, arsl, dchs1, pex6, clcnkb, pdzd7, grik2,
otulin, piezo1, frmpd4, dync2i1, grxcr2, ltbp3, tspear, prss56, hepacam, ubr1, maf, raf1, lck, gaa, bptf,
ptpn11, casr, pik3r1, cntn2, thrb, arid2, trip12, tpm2, tg, samd12, hars1, abcc9, gjb4, casq2, cabp4,
kctd1, kat6a, gnb1, dysf, lrit3, hcfc1, card11, sco1, kcnj11, col6a2, cog4, serpind1, clcn1, mafb, nras,
rag1, large1, rbm8a, aars2, tbx6, mpdu1, frrs1l, pogz, lrtomt, wdr81, ighmbp2, col2a1, sgca, col1a1, adat3,
pacs1, lpar6, myoc, hmcn1, crebbp, grap, coa7, vapb, wac, tufm, scn2a, chrnb1, syn1, pcnt, notch3,
kiss1, tert, col4a1, fgd1, surf1, galt, enam, brca2, psmb4, pgap2, edn3, gdf6, pam16, mpv17, nrl,
selenon, plg, ifngr1, ebp, cnpy3, pqbp1, ptdss1, gba1, wdr4, tmem107, timmdc1, poglut1, nsmce2, prg4, znf469,
zmynd15, dmp1, dspp, wnt5a, atn1, mapre2, trdn, sp110, il10ra, plec, epor, sfxn4, il17ra, tnfaip3, adamts17,
pop1, rnaseh2c, cox8a, eda, mag, col13a1, ccdc141, pnpla1, cfap418, cfap43, ddx3y, bdp1, hspg2, abcc6, rbm20,
serpina6, mesp2, cic, loxhd1, col17a1, slc9a3, sftpa1, myh14, brsk2, tex15, arsg, terc, tyrobp, krt12.6, tcof1,
tlr4, cdkn1b, krt12.2, dnajc5, ripply2.2, krt12.4, mmp13, epo, cdh1, glis2, cox14, mocos, ckap2l, mtrfr, blk,
cd79b, rho.2, otog, g6pc1.3, krt12.3, otogl, tctn3, apoc2, hyls1, slc26a3.3, slc26a4.1, slc26a4.2, cryba1.2, col11a1, fam20a.2,
tuba1a, cabp2, cd164, col7a1, eng, gabrb2, hsf4, krt6b, plvap, sftpa2, tnfsf12, tprn, epb42, alg13
MONDO:0000275 - obsolete monogenic disease |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a)