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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 **12701 - 12725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	BMPR1A MAP3K7 PRKAG2 PRKAG3	51422 53632 657 6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SUCO	51430	Homo sapiens (human)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080717	infantile liver failure syndrome 1	LARS1	51520	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	TMEM138	51524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	JAM2 MYORG PDGFB PDGFRB SLC20A2	5155 5159 57462 58494 6575	Homo sapiens (human)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110863	congenital stationary night blindness autosomal dominant 2 Aliases: CSNBAD2 Rambusch type congenital stationary night blindness	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110375	retinitis pigmentosa 40 Aliases: RP40	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	HIRA MED15 PI4KA PRODH2 SNAP29	51586 5297 58510 7290 9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080716	infantile liver failure syndrome	NBAS RINT1	51594 60561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112115	combined oxidative phosphorylation deficiency 46 Aliases: COXPD46	MRPS23	51649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	CAT ENPP1 TLR4	5167 7099 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5 PLVAP WNT2B	51703 7482 83483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050853	chronic venous insufficiency	CAT PECAM1	5175 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	PECAM1	5175	Homo sapiens (human)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	PROC SERPINF1	5176 5624	Homo sapiens (human)	Alliance of Genome Resources

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