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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 **6026 - 6050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	PRICKLE1 ROR2	144165 4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:1787	pericarditis	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:4330	non-Langerhans-cell histiocytosis	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2 Aliases: FHL2 HLH2 HPLH2	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081157	dilated cardiomyopathy 1LL	PRDM16	63976	Homo sapiens (human)	Alliance of Genome Resources
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	PRB1 RRT12	850412 856649	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080472	developmental and epileptic encephalopathy 91 Aliases: infantile or early childhood epileptic encephalopathy 1	PPP3CA	5530	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070065	autosomal dominant intellectual developmental disorder 35 Aliases: MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35	PPP2R5D	5528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070066	autosomal dominant intellectual developmental disorder 36 Aliases: MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36	PPP2R1A	5518	Homo sapiens (human)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	PPP1R15A TNF	23645 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB	5500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111638	autosomal recessive nonsyndromic deafness 100 Aliases: DFNB100 autosomal recessive deafness 100	PPIP5K2	23262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	PPIB	5479	Homo sapiens (human)	Alliance of Genome Resources
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	PPIA	5478	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	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	5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	POX1	852667	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	POX1	852667	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	POX1	852667	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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