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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6926 - 6950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	hs6st1a hs6st1b	553162 791107	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st	42380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090056	dystonia 12	Atp1a3	232975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	Pcna	25737	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	Pcna	18538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	24788	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081330	glycogen storage disease Ib	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	ogdh.S	399021	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	Ogdh	18293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	Ogdh	360975	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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