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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 **3701 - 3725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	Akt1 Pik3ca	170911 24185	Rattus norvegicus (Norway rat)
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Pik3ca	170911 24185	Rattus norvegicus (Norway rat)
DOID:1324	lung cancer	Comt Hs3st2 Idh2 Myc Pik3ca	170911 24267 24577 293451 361596	Rattus norvegicus (Norway rat)
DOID:0080199	colorectal carcinoma	Chi3l1 Pik3ca Tp53	170911 24842 89824	Rattus norvegicus (Norway rat)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	Hmgb1 Pik3ca	170911 25459	Rattus norvegicus (Norway rat)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:6498	seborrheic keratosis	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0081001	Cowden syndrome 5	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	Lyz1 Lyz2	17105 17110	Mus musculus (house mouse)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	Dcxr	171408	Rattus norvegicus (Norway rat)
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	Man2a1 Pgf Tnf	17158 18654 21926	Mus musculus (house mouse)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	17158	Mus musculus (house mouse)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	Man2b1	17159	Mus musculus (house mouse)
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)

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