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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4176 - 4200** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	Myb	17863	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	Myb Ncor2	17863 20602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070158	hereditary sensory neuropathy type 1E Aliases: HSN1E hereditary sensory neuropathy type IE	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	DNMT1 NTRK1 WNK1	1786 4914 65125	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM2	1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM2 MTMR14	1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	pkd-2	178424	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	erl-1	178178	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	enpl-1	178014	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL	178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1 Aliases: spinal muscular atrophy with lower extremity predominance 1	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	klo-1	177557	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	lad-2 sax-7	177078 177602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	Mstn	17700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111853	primary ciliary dyskinesia 40 Aliases: CILD40 primary ciliary dyskinesia 40 with or without situs inversus	DNAH9	1770	Homo sapiens (human)	Alliance of Genome Resources
DOID:9540	vascular skin disease	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:10646	schizotypal personality disorder	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080832	mild cognitive impairment	AGER SLC6A3	177 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:11981	morbid obesity Aliases: Severe obesity	AGER CTNNBL1 GHRL MC4R MCHR1 NPY2R NTRK2	177 2847 4160 4887 4915 51738 56259	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112164	spermatogenic failure 46 Aliases: SPGF46	DNAH8	1769	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110599	primary ciliary dyskinesia 3 Aliases: CILD3 primary ciliary dyskinesia 3 with or without situs inversus	DNAH5	1767	Homo sapiens (human)	Alliance of Genome Resources

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