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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3701 - 3725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	EPHX2 LCAT	2053 3931	Homo sapiens (human)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	20454	Mus musculus (house mouse)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	CERS3 TNF	204219 7124	Homo sapiens (human)
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060719	autosomal recessive congenital ichthyosis 10 Aliases: ARCI10	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060711	autosomal recessive congenital ichthyosis 3 Aliases: ARCI3 lamellar ichthyosis 5	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0060716	autosomal recessive congenital ichthyosis 7 Aliases: ARCI7	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0050428	nonepidermolytic palmoplantar keratoderma Aliases: Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR MMUT PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 4594 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	Sord	20322	Mus musculus (house mouse)
DOID:2685	ossifying fibromyxoid tumor Aliases: Ossifying Fibromyxoma ossifying fibromyxoid tumour	ENO2	2026	Homo sapiens (human)
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:2769	tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:10600	chronic tic disorder Aliases: chronic motor or vocal tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:146	papilledema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:6929	retinal edema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:10175	optic papillitis Aliases: papillitis	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:3093	nervous system cancer Aliases: malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system	ENO2 IDH1 L2HGDH MUTYH NEU1 PTEN	2026 3417 4595 4758 5728 79944	Homo sapiens (human)

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