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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 **9501 - 9525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	rho rhol	30295 562845	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	rho rhol	30295 562845	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	rho rhol	30295 562845	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	rho rhol	30295 562845	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	wnt10b	30308	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	wnt10b	30308	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	303244	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	Pigs	303277	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	Slc46a1	303333	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	303565	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	Tanc2	303599	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050439	Usher syndrome	Arsg	303631	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9409	diabetes insipidus	AQP2 AVP HAS2	3037 359 551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111363	Heinz body anemia	HBA1 HBA2 HBB	3039 3040 3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111631	familial erythrocytosis 7 Aliases: ECYT7 alpha-globin type erythrocytosis alpha-globin type polycythemia	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	opn1lw1 opn1lw2	30413 436716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	opn1lw1 opn1lw2	30413 436716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13910	red color blindness Aliases: Protan defect Protanopia	opn1lw1 opn1lw2	30413 436716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	HBB NOS3 VEGFA	3043 4846 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources

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