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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 **8376 - 8400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	68421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	Cd40 Cd40lg Cd86 Fas Fcgr2b Fcgr3 Fcgr4 H2-Ab1 H2-Eb1 Il10 Il1a Il1rn Il2 Il4 Itgb3 Plat Tgfb1	12524 14102 14130 14131 14961 14969 16153 16175 16181 16183 16189 16416 18791 21803 21939 21947 246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Ass1 Slc25a13	11898 50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9997	peripartum cardiomyopathy Aliases: antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	Per2 Timeless	18627 21853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070272	hereditary nonpolyposis colorectal cancer type 5 Aliases: HNPCC5	Msh6	17688	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	Ebp	13595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A Aliases: CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Dot1l Lmna Lmnb1 Lmnb2	16905 16906 16907 208266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	Cryaa	12954	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:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	Epo Gbe1	13856 74185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	Aldoc Atf4 Atf6 Bdnf Cd44 Eif2a Gja1 Gjb6 Il16 Ngf Ntf3 Ntrk2 Ntrk3 Slc6a4	11676 11911 12064 12505 14609 14623 15567 16170 18049 18205 18212 18213 226641 229317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcfc1	15161	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	14068	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	Gpr101	245424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	Ctnnb1	12387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	Bdnf	12064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	Akt2	11652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111301	generalized epilepsy with febrile seizures plus 9 Aliases: GEFS+9 GEFSP9 generalised epilepsy with febrile seizures plus 9 generalised epilepsy with febrile seizures plus type 9 generalized epilepsy with febrile seizures plus type 9	Stx1b	56216	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	19017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110605	primary ciliary dyskinesia 7 Aliases: CILD7 primary ciliary dyskinesia 7 with or without situs inversus	Dnah11	13411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	Apoh Cd40lg H2-Aa H2-Ab1 H2-Eb1 Pf4 Plat Proc	11818 14960 14961 14969 18791 19123 21947 56744	Mus musculus (house mouse)	Alliance of Genome Resources

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