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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 **1076 - 1100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050765	neuroacanthocytosis	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)	DisGeNET
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)	DisGeNET
DOID:11554	Chandler syndrome Aliases: Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)	DisGeNET
DOID:5160	arteriosclerosis obliterans	PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646	Homo sapiens (human)	DisGeNET
DOID:3674	kidney rhabdoid cancer Aliases: renal Rhabdoid tumor rhabdoid tumor of the kidney	CD44 PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646 960	Homo sapiens (human)	DisGeNET
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	PIK3CA PIK3CB PIK3CD PIK3CG SFTPD TLR4	5290 5291 5293 5294 6441 7099	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4313	epidermolysis bullosa acquisita Aliases: acquired epidermolysis bullosa	PIK3CA PIK3CB PIK3CD PIK3CG SELL	5290 5291 5293 5294 6402	Homo sapiens (human)	DisGeNET
DOID:3350	mesenchymal cell neoplasm Aliases: benign miscellaneous mesenchymal tumor mesenchymal tumor	PIK3CA PIK3CB PIK3CD PIK3CG SDC1 SORD	5290 5291 5293 5294 6382 6652	Homo sapiens (human)	DisGeNET
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2634	cystadenoma Aliases: Cystoma	CHST3 GOLPH3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SFTPC TNFRSF10C	5290 5291 5293 5294 5728 64083 6440 8794 9469	Homo sapiens (human)	DisGeNET
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	CAT PIK3CA PIK3CB PIK3CD PIK3CG PTEN SPHK2	5290 5291 5293 5294 56848 5728 847	Homo sapiens (human)	DisGeNET
DOID:0080149	adult acute monocytic leukemia	PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 VCAM1	5290 5291 5293 5294 5321 5563 7412	Homo sapiens (human)	DisGeNET
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)	DisGeNET
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	DGKE PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5238 5290 5291 5293 5294 5728 8526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1	5236	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	PGK1	5230	Homo sapiens (human)	DisGeNET

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