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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 **14551 - 14575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080669	posterior polymorphous corneal dystrophy 4	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111682	diffuse cystic renal dysplasia Aliases: CYSRD renal dysplasia diffuse cystic susceptibility to cystic renal dysplasia	BICC1	80114	Homo sapiens (human)	Alliance of Genome Resources
DOID:4549	extraskeletal myxoid chondrosarcoma Aliases: Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma	NR4A3	8013	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FRAS1	80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081213	autosomal recessive intellectual developmental disorder 50	EDC3	80153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081011	Bardet-Biedl syndrome 22	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112352	spermatogenic failure 58 Aliases: SPGF58	IFT74	80173	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: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: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: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:0070170	spermatogenic failure 19 Aliases: SPGF19	CFAP43	80217	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:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)	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:0081183	autosomal recessive intellectual developmental disorder 7	Tusc3	80286	Mus musculus (house mouse)	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: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: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:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	Sost	80722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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