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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 **4626 - 4649** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:8670	eating disorder	HDAC4	9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111576	dehydrated hereditary stomatocytosis 1 Aliases: PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak	PIEZO1	9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	MATR3	9782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112141	retinitis pigmentosa 84 Aliases: RP84	DHX38	9785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080661	nonsyndromic aplasia cutis congenita	BMS1	9790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080239	autosomal recessive intellectual developmental disorder 61 Aliases: Alwadei syndrome autosomal recessive intellectual developmental disorder-61 autosomal recessive mental retardation 61	RUSC2	9853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081151	common variable immunodeficiency 8 Aliases: common variable immunodeficiency-8 (CVID8) with autoimmunity	LRBA	987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110801	hereditary spastic paraplegia 49 Aliases: SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49	TECPR2	9895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110800	hereditary spastic paraplegia 48 Aliases: SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48	AP5Z1	9907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110896	inflammatory bowel disease 16 Aliases: IBD16	TNFSF15	9966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	CDC42	998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080764	hereditary diffuse gastric cancer	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	SLC12A6	9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources

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