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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 **11126 - 11150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	SYT1 SYT2	127833 6857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	SYT1 TRM732	855301 856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities Aliases: IDDSSBA	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	SYT1	856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080413	developmental and epileptic encephalopathy 18 Aliases: DEE18 early infantile epileptic encephalopathy 18	SZT2	23334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	Sacs	50720	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	Sall4	99377	Mus musculus (house mouse)	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	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060747	Duane-radial ray syndrome Aliases: DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12557	Duane retraction syndrome Aliases: Duane's syndrome Stilling-Turk-Duane syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9955	hypoplastic left heart syndrome	Sap130	39455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	Sas-4 tay	32547 40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070290	primary autosomal recessive microcephaly 6 Aliases: MCPH6	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070010	Seckel syndrome 4 Aliases: SCKL4	Sas-4	40859	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	Sash1	70097	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070279	primary autosomal recessive microcephaly 14 Aliases: MCPH14	Sass6	72776	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4441	dysgerminoma	Sb btl htl	39564 41958 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	Sb fz4	31659 41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	Sb	41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	Sb	41958	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	Sbf1	77980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	Scarb2	117106	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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