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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 **4401 - 4425** of **4649** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0111883	Diamond-Blackfan anemia 5 Aliases: DBA5 RPL35A-related Diamond-Blackfan anemia	RPL35A	6165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	RPL26	6154	Homo sapiens (human)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ALDH1A2 CHRD CRKL DICER1 DOCK1 DVL1 ESS2 FGF8 HOXA3 KAT6A NDST1 PLXND1 TGFBR2 UFD1 VEGFA	1399 1793 1855 2253 23129 23405 3200 3340 7048 7353 7422 7994 8220 8646 8854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112158	De Sanctis-Cacchione syndrome Aliases: xeroderma pigmentosum with neurologic manifestation	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	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:0081063	DICER1 syndrome Aliases: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	HSD17B4	3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	IDH1	3417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111546	Currarino syndrome Aliases: Currarino triad	MNX1	3110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080328	Culler-Jones syndrome	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080159	Cryptococcal meningitis	CD274 MBL2 PDCD1	29126 4153 5133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ABCB1 ADIPOQ ALOX12 ALPI APOA4 BPI CD40 CHRNA7 CLDN1 COL6A3 DUOX2 F13A1 F2 FCGR2A FCGR3A FGA FGF7 GC GPX1 HFE HLA-DPA1 HLA-DQB1 ICAM1 IFNG IL10 IL21R IL23R IL6 KDR LRRK2 MADCAM1 MBL2 MKI67 NOD2 OCLN PBRM1 PGF PIKFYVE PLAUR PON1 PON3 PRF1 PTGS2 SELL SLC11A1 SLC22A5 STAT3 THBD TNF TNFRSF1A TNFRSF1B UGT1A1 VEGFA VIPR1	100506658 1139 120892 1293 149233 200576 2147 2162 2212 2214 2243 2252 239 248 2638 2876 3077 3113 3119 337 3383 3458 3569 3586 3791 4153 4288 50506 50615 5228 5243 5329 5444 5446 54658 55193 5551 5743 6402 64127 6556 6584 671 6774 7056 7124 7132 7133 7422 7433 8174 9076 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	GALC HLA-DQB1 MAPT NEFH NEFL PRNP PTGS1 PTGS2 SERPINA3 SNCA STX1A YWHAG	12 2581 3119 4137 4744 4747 5621 5742 5743 6622 6804 7532	Homo sapiens (human)	Alliance of Genome Resources

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