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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 **3726 - 3750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	COL4A2	1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	COL4A3 COL4A4 COL4A5 HLA-DRB1 MMP3	1285 1286 1287 3123 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	COL4A5	1287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111740	X-linked deafness 6 Aliases: DFNX6	COL4A6	1288	Homo sapiens (human)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	COL5A1 COL5A2 LUM	1289 1290 4060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	COL5A2	1290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050557	congenital muscular dystrophy	COL6A1 COL6A3 DYNC1H1 LMNA LMNB1 LMNB2	1291 1293 1778 4000 4001 84823	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:2033	communication disorder	COL6A3 DDB1	1293 1642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090050	dystonia 27	COL6A3	1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	COL7A1 GRIP1	1294 23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	COL7A1 IGFBP3 MMP1	1294 3486 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	COL8A2	1296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070301	multiple epiphyseal dysplasia 6 Aliases: EDM6	COL9A1	1297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070298	multiple epiphyseal dysplasia 2 Aliases: EDM2	COL9A2	1298	Homo sapiens (human)	Alliance of Genome Resources

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