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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 **5676 - 5700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:11372	megacolon Aliases: Dilatation of colon	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	Ednrb Kitlg	50672 60427	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080463	developmental and epileptic encephalopathy 33 Aliases: DEE33 early infantile epileptic encephalopathy 33	Eef1a1 Eef1a2	13627 13628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	Eef1a2	13628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	Eef2 Kdm6a Slc7a5 Stat3 Stat6	13629 20539 20848 20852 22289	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	Eef2 Ncam1	13629 17967	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	Eef2	13629	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	Efemp1 Esr2 Ncam1	13983 17967 216616	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	Efemp1	216616	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060668	anencephaly	Efna5	116683	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060668	anencephaly	Efna5	13640	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1934	dysostosis	Efnb1 Kif3a	13641 16568	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	Efnb1	13641	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	Eftud2 Tcof1	20624 21453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	Eftud2	20624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	Eftud2	20624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	Egf Igf1r	13645 16001	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	Egf Psmc5 Tnf	13645 19184 21926	Mus musculus (house mouse)	Alliance of Genome Resources

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