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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5301 - 5325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	CCM2 CDC42 CDC42BPA CDC42BPB CDC42BPG FLT1 KDR PIK3CA PON1 PTEN RNF213 STK24	2321 3791 5290 5444 55561 5728 57674 83605 8428 8476 9578 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	GALNS GLB1	2588 2720	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	KCNV2	169522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	SERPINE1 UGT1A1	5054 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050880	Koolen de Vries syndrome Aliases: 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome	KANSL1	284058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)	Alliance of Genome Resources
DOID:8506	bullous pemphigoid	F2 ICAM1 IL2 VEGFA	2147 3383 3558 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 COL6A3	1291 1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080353	X-linked recessive hypophosphatemic rickets	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	BDKRB1 CD40LG NGF NRG1 TRPA1	3084 4803 623 8989 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080839	X-linked warfarin sensitivity	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:5022	aflatoxins-related hepatocellular carcinoma	GGT1 GGTLC1 GGTLC2	2678 91227 92086	Homo sapiens (human)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	F2 F9	2147 2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources

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