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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 **6651 - 6675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060956	dystonia 37, early-onset with striatal lesions	NUP54	53371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP53	855184	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP35 PTEN SPRY2	10253 129401 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080381	nephrotic syndrome type 13	NUP205	23165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080394	nephrotic syndrome type 19	NUP160	23279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080385	nephrotic syndrome type 11	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080694	Galloway-Mowat syndrome	NUP107 NUP133 YRDC	55746 57122 79693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050610	oral cavity carcinoma in situ	NUF2	83540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080285	developmental and epileptic encephalopathy 58 Aliases: DEE58 early infantile epileptic encephalopathy 58	NTRK2	4915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	NTRK1	4914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTG1 NTG2	851218 854114	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	NTE1	854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	NTE1 SEY1 VPS1	853870 854336 854943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E TNFRSF11B	4907 4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081181	autosomal recessive intellectual developmental disorder 5	NSUN2	54888	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NSP1	853409	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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