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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 **1176 - 1200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3	84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	Clcn3	84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	Ctnnb1	84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	Col1a2	84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	Col1a2	84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11702	dysgammaglobulinemia	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050873	follicular lymphoma	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050169	cutaneous lupus erythematosus	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	84347	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	LTBP4	8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	TMEM126A	84233	Homo sapiens (human)	Alliance of Genome Resources

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