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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 **12126 - 12150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080249	erythrokeratodermia variabilis et progressiva 3	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111817	syndactyly type 3 Aliases: SDTY3 ringand little finger syndactyly syndactyly of fingers 4 and 5 syndactyly, type III	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111244	palmoplantar keratoderma and congenital alopecia 1 Aliases: PPK-CA, Stevanovic type PPKCA Stevanovic type PPKCA1 autosomal dominant palmoplantar hyperkeratosis and congenital alopecia autosomal dominant palmoplantar keratoderma and congenital alopecia keratoderma-hypotrichosis-leukonychia totalis syndrome palmoplantar keratoderma and congenital alopecia, Stevanovic type	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	Gja1 Tgfb1	14609 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	Gja1 Jup	14609 16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111396	congenital dyserythropoietic anemia type I Aliases: CDA I CDA type 1 CDA type I Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111398	congenital dyserythropoietic anemia type Ia Aliases: CDA Ia CDAN1A	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050961	spinocerebellar ataxia type 11	TTBK2	146057	Homo sapiens (human)	Alliance of Genome Resources
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	Cblif	14603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	Cblif	14603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	Ghrhr	14602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	Ghr	14600	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5353	colonic disease Aliases: colon disorder	Ghr	14600	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	Ghr Ghrhr Ghsr Igfals Tg	14600 14602 16005 208188 21819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	Ggt1	14598	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Atg7 Ggt1 Htr2a Htr2b Ngf	14598 15558 15559 18049 74244	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4galt1	14595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1 Nus1 Pmm2	14595 208211 208624 52014 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:28	endocrine system disease	B4galt1 Pcsk1	14595 18548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12336	male infertility	ADAMTS16 ARMC2 BSCL2 CABYR CAPZA3 CFAP47 CSNK2A2 CYLC1 FAS GPX3 KIT PMFBP1	1459 1538 170690 26256 26580 286464 2878 355 3815 83449 84071 93661	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	Gfra1 Itga8	14585 241226	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	Gfpt1	14583	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	Gfpt1 Slc18a2 Th	14583 214084 21823	Mus musculus (house mouse)	Alliance of Genome Resources

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