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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **176 - 200** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:10548	cardia cancer Aliases: Ca cardia - stomach malignant neoplasm of cardia of stomach	CD44 SPHK1 UGT2B7	7364 8877 960	Homo sapiens (human)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	UGDH	7358	Homo sapiens (human)
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)
DOID:0060282	persistent hyperplastic primary vitreous	CRPPA	729920	Homo sapiens (human)
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	CRPPA POMGNT2	729920 84892	Homo sapiens (human)
DOID:4271	microsporidiosis Aliases: Infection by Microspora Infection by Microsporea Infection by Microsporida	TPI1	7167	Homo sapiens (human)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	Homo sapiens (human)
DOID:10811	nasal cavity cancer Aliases: malignant neoplasm of nasal cavities malignant tumor of the nasal cavity	TP53	7157	Homo sapiens (human)
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	TP53	7157	Homo sapiens (human)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)
DOID:0080750	erythema nodosum	TNF	7124	Homo sapiens (human)
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	TNF	7124	Homo sapiens (human)
DOID:5463	cochlear disease	TNF	7124	Homo sapiens (human)
DOID:0050642	hypochromic microcytic anemia	TNF	7124	Homo sapiens (human)
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	IL18R1 TNF	7124 8809	Homo sapiens (human)
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	AKR1C3 TNF	7124 8644	Homo sapiens (human)
DOID:9402	epididymitis	TNF UNG	7124 7374	Homo sapiens (human)
DOID:11823	hepatorenal syndrome	TLR4 TNF VCAM1	7099 7124 7412	Homo sapiens (human)
DOID:8867	molluscum contagiosum	TLR2	7097	Homo sapiens (human)
DOID:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	CAT TLR2 TLR4	7097 7099 847	Homo sapiens (human)
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)

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