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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 **1401 - 1425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	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: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:0080784	urinary tract infection Aliases: UTI	TLR2 TLR4	7097 7099	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)
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	TFAP2B	7021	Homo sapiens (human)
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:0060108	brain glioma Aliases: lower grade glioma	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	TDH1 TDH2 TDH3	853106 853395 853465	Saccharomyces cerevisiae S288C
DOID:0111047	platelet-type bleeding disorder 14 Aliases: BDPLT14 thromboxane synthase deficiency	TBXAS1	6916	Homo sapiens (human)
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)
DOID:271	hemangioma of liver Aliases: Angioma of Liver hepatic angioma	TALDO1	6888	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0110443	dilated cardiomyopathy 1B	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:9884	muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans

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