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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 **9801 - 9825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111010	cone-rod dystrophy 5 Aliases: CORD5	PITPNM3	83394	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	PITRM1 SIL1	10531 64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070411	autosomal recessive spinocerebellar ataxia 30 Aliases: SCAR30	PITRM1	10531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PITX2 PRPS1 PRPSAP1	5308 5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080609	anterior segment dysgenesis 4	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
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:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	PKD2 PKD2L1 PKD2L2	27039 5311 9033	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: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: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: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:11151	cholecystolithiasis	PLA2G2A UGT1A1	5320 54658	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:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	PLA2G6	8398	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	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090056	dystonia 12	PLA2G6	8398	Homo sapiens (human)	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	8398	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:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	PLAU TNC TREM1	3371 5328 54210	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:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)	Alliance of Genome Resources

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