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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:0080260	autosomal recessive spinocerebellar ataxia 26 Aliases: SCAR26	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2 Aliases: MLASA2	YARS2	51067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111693	familial adult myoclonic epilepsy 4 Aliases: FAME4 FCMTE4 familial cortical myoclonic tremor and epilepsy 4	YEATS2	55689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111436	optic atrophy 11 Aliases: OPA11	YME1L1	10730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111943	immunodeficiency 48 Aliases: IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency	ZAP70	7535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081217	autosomal recessive intellectual developmental disorder 56	ZC3H14	79882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110857	posterior polymorphous corneal dystrophy 3 Aliases: Ppcd3	ZEB1	6935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081075	Marsili syndrome Aliases: congenital analgesia congenital insensitivity to pain	ZFHX2	85446	Homo sapiens (human)	Alliance of Genome Resources
DOID:4929	tubular adenocarcinoma Aliases: tubular carcinoma	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050957	spinocerebellar ataxia type 4	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	ZFYVE26	23503	Homo sapiens (human)	Alliance of Genome Resources
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ZIC4 ZNF423	23090 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070294	primary autosomal recessive microcephaly 10 Aliases: MCPH10	ZNF335	63925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111122	nephronophthisis 14 Aliases: NPHP14	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:2786	cerebellar disease	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081369	Paget's disease of bone 6 Aliases: Paget disease of bone-6	ZNF687	57592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources

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