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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 **801 - 825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:10071	larynx squamous papilloma Aliases: Laryngeal Squamous Cell Papilloma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8368	chordoid meningioma Aliases: meningioma, chordoid	PTEN	5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3502	ampulla of Vater adenocarcinoma Aliases: ampullary adenocarcinoma	CD44 PTEN	5728 960	Homo sapiens (human)	DisGeNET
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)	DisGeNET
DOID:0060182	microscopic colitis	CD14 PTEN	5728 929	Homo sapiens (human)	DisGeNET
DOID:6214	ovarian papillary neoplasm Aliases: Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:6067	ovarian mucinous neoplasm Aliases: Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary	PDHX PTEN	5728 8050	Homo sapiens (human)	DisGeNET
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)	DisGeNET
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	PTEN TP53	5728 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	PTEN TNF	5728 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	Homo sapiens (human)	DisGeNET
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	572324	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	572324	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081292	traumatic brain injury	BAD TP53	572 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	BAD PTGS2 SRD5A1	572 5743 6715	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1	571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1	571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)	DisGeNET
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp	571426	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	fkrp	571426	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	571426	Danio rerio (zebrafish)	Alliance of Genome Resources

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