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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 **1376 - 1400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:10609	rickets Aliases: active rickets	Fam20c	80752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	Fam20c	80752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	FGF23	8074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	SLC44A4	80736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060756	sclerosteosis 1 Aliases: SOST1	Sost	80722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	Sost	80722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	Sost	80722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	Sost	80722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080691	Noonan syndrome-like disorder with loose anagen hair	SHOC2	8036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	REEP4	80346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	WNT10A	80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	Tusc3	80286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	MLLT10	8028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111465	combined oxidative phosphorylation deficiency 21 Aliases: COXPD21	TARS2	80222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070170	spermatogenic failure 19 Aliases: SPGF19	CFAP43	80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X Aliases: Charcot-Marie-Tooth neuropathy type 2X autosomal recessive axonal Charcot-Marie-Tooth disease type 2X	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111433	optic atrophy 3 Aliases: ADOAC OPA3 autosomal dominant optic atrophy 3 autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy type 3 optic atrophy 3 with cataract	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112352	spermatogenic failure 58 Aliases: SPGF58	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081011	Bardet-Biedl syndrome 22	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources

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