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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 **13076 - 13100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13258	typhoid fever Aliases: Typhoid	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050127	sinusitis	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:5733	salpingitis	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111862	congenital bilateral absence of vas deferens Aliases: CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080526	bronchiectasis 1	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	cftr	559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111961	immunodeficiency 26 Aliases: IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	Slc1a4	55963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110386	retinitis pigmentosa 42 Aliases: RP42	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080331	cold-induced sweating syndrome 3	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	55981	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	cacna1fb	559964	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	cacna1fb	559964	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	cacna1fb	559964	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	cacna1fb	559964	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	ACVR2B CFC1 CFC1B	55997 653275 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	dsg2.1	560026	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	dsg2.1	560026	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110082	arrhythmogenic right ventricular dysplasia 11 Aliases: ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11	dsc2l	560091	Danio rerio (zebrafish)	Alliance of Genome Resources

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