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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 **12851 - 12875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050557	congenital muscular dystrophy	Col6a1 Col6a3 Dync1h1 Lmna Lmnb1 Lmnb2	12833 12835 13424 16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Cavin4 Col6a1 Col6a3 Dag1 Dmd Dysf Fkrp Fktn Lama1 Lama2 Lmna Lmnb1 Lmnb2 Pomgnt1 Pomt1 Pomt2 Popdc3 Sgca Sgcb Sgcd Sgcg Sgcz Sntb2 Syne1 Tnf	12833 12835 13138 13405 16772 16773 16905 16906 16907 20391 20650 217734 21926 24051 24052 24053 243853 244431 246179 26903 64009 68016 68273 78977 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080726	Ehlers-Danlos syndrome classic type 2	Col5a2	12832	Mus musculus (house mouse)	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	12831 12832 17022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	Col4a3 Myh9	12828 17886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	Col4a3 Col4a4	12828 12829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	Col4a3 Col4a4	12828 12829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	Col4a3 Col4a4 H2-Eb1	12828 12829 14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	Col4a2	12827	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	12826	Mus musculus (house mouse)	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	12826	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060263	porencephaly	Col4a1 Col4a2	12826 12827	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	Col4a1 Col4a2 Col6a3 Dapk1 Irs1 Tnrc6b	12826 12827 12835 16367 213988 69635	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	Col3a1	12825	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness Aliases: EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8886	chorioretinitis Aliases: retinochoroiditis	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources

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