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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 **12076 - 12100** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Gemin5	216766	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5	25929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	E(bx)	44811	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	Supt16	114741	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	cacna1c.S	100462911	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Cacna1c	24239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	cacna1c	100488055	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	cacna1c	170581	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Cacna1c	12288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	mef-2	172732	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	Mef2c	17260	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	TIAM1 TIAM2	26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	Tiam2	24001	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Aliases: NEDMCR syndrome	GEMIN4	50628	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	Arhgef2	16800	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations Aliases: NEDMHM	ARHGEF2	9181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081324	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss Aliases: NEDGTH	Psmc1	19179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	Irf2bp2 Irf2bpl	238330 270110	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources

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