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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 **3526 - 3550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081378	amyotrophic lateral sclerosis type 24	NEK1 NEK9	4750 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040089	autoimmune optic neuritis	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060249	scoliosis	Sspo	474348	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	tll1	474335	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	ATIC PNP UMPS	471 4860 7372	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050933	ovarian serous carcinoma	MAP2K4 NCAM1 PTEN	4684 5728 6416	Homo sapiens (human)	Alliance of Genome Resources
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	NBN	4683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111198	autosomal dominant distal hereditary motor neuronopathy Aliases: autosomal dominant dHMN autosomal dominant distal hereditary motor neuropathy autosomal dominant distal spinal muscular atrophy	NARS1	4677	Homo sapiens (human)	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	4669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)	Glyco-Disease Genes Database 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	4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:479	angiokeratoma Aliases: Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma	NAGA	4668	Homo sapiens (human)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	NAGA PLA2G6	4668 8398	Homo sapiens (human)	Alliance of Genome Resources

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