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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 **5676 - 5700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	Ppia Ppial4d	100360977 25518	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	Ppargc1a	19017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	Pparg	25664	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	Pparg Prl3c1	25664 58937	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	Pparg	19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	Pparg Rxra Slc25a4	11739 19016 20181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2914	immune system disease	Pou2f1	18986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080010	bone structure disease	Postn Qrfpr	229214 50706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080925	cytochrome P450 oxidoreductase deficiency	Por	18984	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	Por	18984	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	Por Ren1	18984 19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	Pon1	84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	Pon1	84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	Pon1	18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	Pon1	18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	688673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	Pomt2	688673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	688673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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