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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 **6026 - 6050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:529	blepharospasm	drd5.S	108705891	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	Hyou1	12282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ADP1 GIT1 VVS1	850369 850462 852543	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	zmp-3	178748	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	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:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	DIAPH1 DIAPH3	1729 81624	Homo sapiens (human)	Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	ace epoa pon1	100004455 447803 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Cdkn1b Dlst Sdha Sdhb Slc25a11	157074 298596 299201 64201 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112189	thyroid dyshormonogenesis 6 Aliases: TDH6 genetic defect in thyroid hormonogenesis 6	Duox	33477	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Ctss Mpz Yars1	107271 13040 17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5679	retinal disease	Aqp4 Cept1 Il10 Opn4 Prph2 Thy1	192223 24832 25293 25325 25534 310773	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13141	uveitis	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	tmem132e	564044	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP1	850906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FRAS1	80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	GALC PSAP	2581 5660	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	Hfe Tfr2 Tnf	24835 288562 29199	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110314	hypertrophic cardiomyopathy 8 Aliases: cardiomyopathy hypertrophic mid-left ventricular chamber type 1 cardiomyopathy, familial hypertrophic, 8	Myl3	24585	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	tgfb1.L	397778	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070387	developmental and epileptic encephalopathy 101 Aliases: DEE101 early infantile epileptic encephalopathy 101	Nmdar1	40665	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111381	IVIC syndrome Aliases: Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources

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