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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
DOID:4217	malignant ovarian Brenner tumor	PIK3CA	5290	Homo sapiens (human)
DOID:3895	apocrine adenoma Aliases: tubular Apocrine adenoma	PIK3CA	5290	Homo sapiens (human)
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	PIK3CA	5290	Homo sapiens (human)
DOID:10303	sialadenitis Aliases: Sialoadenitis	CALR PIK3CD	5293 811	Homo sapiens (human)
DOID:10301	parotitis	CALR PIK3CD	5293 811	Homo sapiens (human)
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)
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)
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)
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	PI4KA	5297	Homo sapiens (human)
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)
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)
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)
DOID:0050876	Caroli disease	PKD1	5310	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)
DOID:9439	chronic cholangitis	PKM	5315	Homo sapiens (human)
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)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)

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