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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 **12776 - 12800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111548	ring dermoid of cornea Aliases: RDC ring dermoid syndrome	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110120	Axenfeld-Rieger syndrome type 1 Aliases: RIEG1 Rieger syndrome type 1	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PKLR	5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081394	Caroli syndrome	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110077	arrhythmogenic right ventricular dysplasia 9 Aliases: ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9	PKP2	5318	Homo sapiens (human)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	PLA2G2A UGT1A1	5320 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	PLA2G2A TLR2	5320 7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:2615	papilloma Aliases: papillomatosis	PLA2G4A PTGES	5321 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4 PLAT	5327 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	PLAT	5327	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111050	Quebec platelet disorder Aliases: BDPLT5 factor V Quebec platelet-type bleeding disorder 5	PLAU	5328	Homo sapiens (human)	Alliance of Genome Resources
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	PLAUR	5329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	Pla2g6	53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	NUP54	53371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	53374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q Aliases: LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources

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