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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 **3826 - 3850** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)
DOID:0050951	hereditary ataxia	HSD17B4 PRNP	3295 5621	Homo sapiens (human)
DOID:0050857	Perrault syndrome	HSD17B4	3295	Homo sapiens (human)
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)
DOID:4085	trophoblastic neoplasm Aliases: Trophoblastic tumor	HSD3B1 LGALS1	3283 3956	Homo sapiens (human)
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:9159	gas gangrene Aliases: Gas bacillus infection	HSPG2	3339	Homo sapiens (human)
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	HTR2A	3356	Homo sapiens (human)
DOID:0050809	mucopolysaccharidosis IX	HYAL1 HYAL2	3373 8692	Homo sapiens (human)
DOID:1025	tuberculoid leprosy Aliases: Smooth leprosy type T leprosy	ICAM1 ICAM2 VCAM1	3383 3384 7412	Homo sapiens (human)
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	ICAM1 IL1R1 PSMD10 PTGS2 TLR2 TLR4 TNF TP53	3383 3554 5716 5743 7097 7099 7124 7157	Homo sapiens (human)
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	ICAM1 IMPA1 MBL2 PLB1 PTGES3 UNG	10728 151056 3383 3612 4153 7374	Homo sapiens (human)
DOID:9938	dacryocystitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)
DOID:950	dacryoadenitis	ICAM1 LYZ	3383 4069	Homo sapiens (human)
DOID:853	polymyalgia rheumatica	ICAM1 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 3383 4153 5290 5291 5293 5294	Homo sapiens (human)
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	ICAM1 NCAM1 PTEN	3383 4684 5728	Homo sapiens (human)
DOID:12969	central nervous system leukemia Aliases: Leukemia of the CNS	ICAM1 NCAM1	3383 4684	Homo sapiens (human)
DOID:0080998	acute necrotizing pancreatitis	ICAM1 PDX1 SELP TBXAS1 TLR2 TLR4	3383 3651 6403 6916 7097 7099	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	ICAM1 PIK3CA PIK3CD PIK3CG PTEN VCAM1	3383 5290 5293 5294 5728 7412	Homo sapiens (human)
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	ICAM1 PLAAT3 RECK SELP SLC17A5 SMUG1	11145 23583 26503 3383 6403 8434	Homo sapiens (human)

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