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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 **6826 - 6850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3	12266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	Acvr2b Cfc1 Zic3	11481 12627 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	Ctnnd1	12388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	Cftr Ugt1a10 Ugt1a7c Ugt1a8 Ugt1a9	12638 394430 394432 394434 613123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111960	immunodeficiency 15A Aliases: IMD15A	Ikbkb	16150	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	Actb Ccl2 F7 Fcgr2b Fcgr3 Fga Gale Gne Ifnl2 Il10 Itga2 Itga2b Itgb3 Mbl2 Mpl Myh9 Ptprj Src Tbxa2r Thpo Tnf Tuba8	11461 14068 14130 14131 14161 16153 16398 16399 16416 17195 17480 17886 19271 20296 20779 21390 21832 21926 330496 50798 53857 74246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111558	Charcot-Marie-Tooth disease type 2DD Aliases: ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD	Atp1a1 Atp1a2 Atp1a3 Atp4a	11928 11944 232975 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112146	retinitis pigmentosa 89 Aliases: RP89	Kif3b	16569	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	Dse	212898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070013	Seckel syndrome 2 Aliases: SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2	Rbbp8	225182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111467	combined oxidative phosphorylation deficiency 13 Aliases: COXPD13	Pnpt1	71701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	Cel	12613	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	Nup133	234865	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	Slc3a2 Slc7a5	17254 20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpine2 Serpini2	20700 20701 20702 20703 20704 20720 67931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	Apob C3 Cd36 Cd40lg Cfb Cyp2c29 F2 F3 Gpx1 H2-Ab1 Hk1 Nos3 Pecam1 Pgf Pon1 Spta1 Tgfb1 Tnf	12266 12491 13095 14061 14066 14775 14961 14962 15275 18127 18613 18654 18979 20739 21803 21926 21947 238055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080698	Teebi hypertelorism syndrome 1 Aliases: Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1	Specc1l	74392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	Gpnmb	93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	Actg1	11465	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ccl2 Cd46 Fbln5 Ppargc1a	17221 19017 20296 23876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	Wnt7a	22421	Mus musculus (house mouse)	Alliance of Genome Resources

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