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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 **9301 - 9325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080394	nephrotic syndrome type 19	NUP160	23279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080381	nephrotic syndrome type 13	NUP205	23165	Homo sapiens (human)	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:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP53	855184	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060956	dystonia 37, early-onset with striatal lesions	NUP54	53371	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NUP62	23636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080387	nephrotic syndrome type 12	NUP93	9688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	NYX	60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	Naga Pla2g6	17939 53357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	Naga	315165	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	Naglu	27419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V Aliases: CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V	Naglu	27419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	Nalcn	338370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070393	developmental and epileptic encephalopathy 107 Aliases: DEE107 early infantile epileptic encephalopathy 107	Napb	17957	Mus musculus (house mouse)	Alliance of Genome Resources

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