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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11126 - 11150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	11975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080769	early-onset vitamin B6-dependent epilepsy 1 Aliases: EPEO1 PDE-PLPBP	Plpbp	114863	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	Tubb5	22154	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	Cyp1a1 Flnb Fras1 Gli3 Grip1 Ret	13076 14634 19713 231470 286940 74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	Rest	19712	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	208211	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050686	organ system cancer	Il1r2	16178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	Slc26a5	80979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Adgrb1 Adgrl4 Akt3 Atrx Bag3 Chi3l1 Cpe Ctsb Ctsh Dmbt1 Egf Enpp1 Ezh2 Flt3l Idh1 Il16 Kcnc2 Kdr Kras L1cam Map2k3 Mmp2 Mmp9 Pdgfb Pdgfrb Pdpn Pgf Pik3cb Ptgs1 Ptgs2 Ptprb Rpl35a Serping1 Slc7a5 Stat3 Stat5a Tnc Trp53	107831 12258 12654 12876 12945 13030 13036 13645 14056 14256 14726 15926 16170 16542 16653 16728 170757 17390 17395 18591 18596 18605 18654 19224 19225 19263 20539 20848 20850 21923 22059 22589 23797 26397 268345 29810 57808 74769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	Col4a1 Col4a2 Col4a3 Col4a4 Dnm1 Dnm2 Dnm3 Tlr1 Tlr2 Tlr4 Tlr6	103967 12826 12827 12828 12829 13429 13430 21897 21898 21899 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	Edem3 Galnt2 Stx5a	108148 56389 66967	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	Clock Ghrhr Igf1r Ins1 Insr Insrr Nf1 Npsr1 Tfap2b	12753 14602 16001 16333 16337 18015 21419 23920 319239	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10609	rickets Aliases: active rickets	Fam20c	80752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	Chrnb2	11444	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	Bmp5	12160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	F2 F9	14061 14071	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	Ace Adrb1 Agtr1a Agtr1b Agtr2 Avpr1a Camk2d Cma1 Cxcr3 Eif4g2 Fn1 G6pd2 G6pdx Gja1 Havcr1 Lama2 Lcn2 Mpo Pdgfa Ptgs1 Rela Ren1 Slc9a1 Spp1 Timd2	108058 11421 11554 11607 11608 11609 12766 13690 14268 14380 14381 14609 16773 16819 171283 171284 17228 17523 18590 19224 19697 19701 20544 20750 54140	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111795	congenital nystagmus 6 Aliases: NYS6 X-linked congenital nystagmus 6	Gpr143	18241	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110918	hereditary spherocytosis type 3 Aliases: HS3 SPH3 hereditary spherocytosis 3	Spta1	20739	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080699	glutathione synthetase deficiency	Gss	14854	Mus musculus (house mouse)	Alliance of Genome Resources

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