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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 **3876 - 3900** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080058	autosomal recessive spinocerebellar ataxia 14 Aliases: SCAR14	SPTBN2	6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	SRC	6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	ST14	6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111945	immunodeficiency 31A Aliases: IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111946	immunodeficiency 31C Aliases: CANDF7 IMD31C autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C familial candidiasis 7	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111944	immunodeficiency 31B Aliases: IMD31B autosomal recessive STAT1 deficiency autosomal recessive immunodeficiency 31B, mycobacterial and viral infections predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111975	immunodeficiency 44 Aliases: IMD44	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:9997	peripartum cardiomyopathy Aliases: antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy	STAT3	6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081373	disabling pansclerotic morphea Aliases: disabling pansclerotic morphea of childhood	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	STAT5A STAT5B	6776 6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B	6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	CDKL5	6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5 Aliases: FHL5 HLH5 HPLH5	STXBP2	6813	Homo sapiens (human)	Alliance of Genome Resources
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	BSG TP53	682 7157	Homo sapiens (human)	Alliance of Genome Resources

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