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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 **7676 - 7700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:13514	venous tributary occlusion of retina Aliases: Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina	ITGA2 SERPINF1	3673 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	ITGA2B ITGB3	3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	ITGA6 LAMB3 LAMC2	3655 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ITGA7	3679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	ITGB6	3694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111578	Gillespie syndrome Aliases: GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	IZH1	852102	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	Iars2 Lars2 Letm2 Ndufs1 Ndufs4 Ndufs8 Slc25a4 Slc25a5 Tomm70a Vars1	102436 11739 11740 17993 22321 225887 227197 270035 28185 381314	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	Icam1 Il10 Il1rn	15894 16153 16181	Mus musculus (house mouse)	Alliance of Genome Resources
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 Il1a Il1r1 Il2 Mmp1a Mmp2 Mmp9 Rela Tlr2 Tlr4 Tnf Trp53 Vegfa	15894 16175 16177 16183 17390 17395 19697 21898 21926 22059 22339 24088 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	Icam1 Mbl2 Ndst1 Npsr1 Sftpb Sftpd Sod1 Vegfa	15531 15894 17195 20388 20390 20655 22339 319239	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8549	chronic ulcer of skin Aliases: Callous ulcer Indolent ulcer	Icam1 Mmp9 Pdgfa Pdgfra	15894 17395 18590 18595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	Icam1 Mtor	15894 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13252	mesenteric vascular occlusion	Icam1 Trem1	15894 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	Icam1	15894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	Icam1	15894	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	Icam1 Il10 Il1rn	25325 25464 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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