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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 **12876 - 12900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080676	Stickler syndrome 1	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5614	eye disease	Col2a1 Eya4 F2 Myrf Tlr2 Tlr3 Tlr4 Tnf	12824 14051 14061 142980 21898 21926 225908 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	Col2a1 Hapln1	12824 12950	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	Col18a1 Gpnmb	12822 93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070337	epithelial recurrent erosion dystrophy Aliases: COL17A1 ERED	Col17a1	12821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	Col17a1 Itgb4 Lama3 Lamb3 Lamc2	12821 16774 16780 16782 192897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Col17a1 Itga3 Itga6 Itgb4 Lama3 Lamb3 Lamc2	12821 16400 16403 16774 16780 16782 192897	Mus musculus (house mouse)	Alliance of Genome Resources
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:854	collagen disease Aliases: collagen disorder	COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM1 DNM2 TLR4 TLR5	1282 1285 1286 1287 1288 1759 1785 7099 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060263	porencephaly	COL4A1 COL4A2	1282 1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	COL4A1 COL4A2 COL6A3 IRS1 TNRC6B TSC2	1282 1284 1293 23112 3667 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110673	congenital myasthenic syndrome 19 Aliases: CMS19	Col13a1	12817	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col12a1 Col6a1 Col6a2 Col6a3	12816 12833 12834 12835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	Col11a2	12815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Col11a1 Col11a2 Col2a1	12814 12815 12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	Coch	12810	Mus musculus (house mouse)	Alliance of Genome Resources

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