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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 **5476 - 5500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081213	autosomal recessive intellectual developmental disorder 50	EDC3	80153	Homo sapiens (human)	Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	EDN1 IL6 VEGFA	1906 3569 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:5845	anterolateral myocardial infarction	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	EDNRA	1909	Homo sapiens (human)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	Homo sapiens (human)	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	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:11372	megacolon Aliases: Dilatation of colon	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080463	developmental and epileptic encephalopathy 33 Aliases: DEE33 early infantile epileptic encephalopathy 33	EEF1A1 EEF1A2	1915 1917	Homo sapiens (human)	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	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	EEF2 KDM6A SLC7A5 STAT3 STAT4 STAT6	1938 6774 6775 6778 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	EEF2 NCAM1	1938 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	EEF2	1938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	EFL1 EIF6 RPL3 SERPINI2 SRP54	3692 5276 6122 6729 79631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060668	anencephaly	EFNA5 NUAK2 RPGRIP1L	1946 23322 81788	Homo sapiens (human)	Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources

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