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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 **10051 - 10075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	aagr-4	180400	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	aagr-4	180400	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	DPP6	1804	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	AR ATP7A ATP7B DPP6 HEXB KIF5B VAPB	1804 3074 367 3799 538 540 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	Nefl	18039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	Nefl	18039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	Nefl	18039	Mus musculus (house mouse)	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	18039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	Nefl Prnp	18039 19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060850	annular pancreas	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111774	46,XY sex reversal 7 Aliases: 46,XY gonadal dysgenesis, partial or complete, DHH-related 46,XY sex reversal, partial or complete, DHH-related GDXYM SRXY7 gonadal dysgenesis, XY, male limited	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	grd-2 wrt-6	180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081154	common variable immunodeficiency 12	Nfkb1	18033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050340	opportunistic bacterial infectious disease	Nfkb1 Smarca4 Smarcc1 Smarcc2	18033 20586 20588 68094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	Nfix	18032	Mus musculus (house mouse)	Alliance of Genome Resources

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