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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1 - 25** of **4115** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070565	spermatogenic failure 66 Aliases: SPGF66	ZPBP	11055	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:0111122	nephronophthisis 14 Aliases: NPHP14	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111410	exudative vitreoretinopathy 6 Aliases: EVR6	ZNF408	79797	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110395	retinitis pigmentosa 72 Aliases: RP72	ZNF408	79797	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: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:0050957	spinocerebellar ataxia type 4 Aliases: SCA4	ZFHX3	463	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:0110857	posterior polymorphous corneal dystrophy 3 Aliases: PPCD3	ZEB1	6935	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:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	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:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111436	optic atrophy 11 Aliases: OPA11	YME1L1	10730	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:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2 Aliases: MLASA2	YARS2	51067	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: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:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080260	autosomal recessive spinocerebellar ataxia 26 Aliases: SCAR26	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources

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