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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6901 - 6925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3895	apocrine adenoma Aliases: tubular Apocrine adenoma	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:5477	clear cell adenofibroma	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:4217	malignant ovarian Brenner tumor	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:10301	parotitis	CALR PIK3CD	5293 811	Homo sapiens (human)	DisGeNET
DOID:10303	sialadenitis Aliases: Sialoadenitis	CALR PIK3CD	5293 811	Homo sapiens (human)	DisGeNET
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	PI4KA SLC25A1	5297 6576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	PI4KA	5297	Homo sapiens (human)	DisGeNET
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)	DisGeNET
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050876	Caroli disease	PKD1	5310	Homo sapiens (human)	DisGeNET
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)	DisGeNET
DOID:0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Aliases: ALS-PDC Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome Guam disease Lytico-Bodig disease PDALS amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam parkinsonism-dementia-ALS complex	PLA2G4A PTGS2	5321 5743	Homo sapiens (human)	DisGeNET
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)	DisGeNET
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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