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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 **1351 - 1375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060389	chromosome 10q23 deletion syndrome	Bmpr1a	81507	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	Sil1	81500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:4896	bile duct adenocarcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050872	large cell neuroendocrine carcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090068	giant axonal neuropathy 1	GAN	8139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	DEPDC5 NPRL3	8131 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	AP3B2	8120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	PABPN1	8106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	CLPTM1L	81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090102	autosomal dominant macrothrombocytopenia TUBB1-related	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	Itga7	81008	Rattus norvegicus (Norway rat)	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:0111743	cerebellar ataxia type 47 Aliases: SCA47	Pum1	80912	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	Abo	80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	80903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081151	common variable immunodeficiency 8 Aliases: common variable immunodeficiency-8 (CVID8) with autoimmunity	Lrba	80877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081343	congenital myopathy 9A	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081344	congenital myopathy 9B	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	AAAS	8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:903	gastrointestinal lymphoma	KMT2D	8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080893	Bainbridge-Ropers syndrome Aliases: ASXL3-related disorder	ASXL3	80816	Homo sapiens (human)	Alliance of Genome Resources

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