DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 126 - 150 of 62743 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Gene Name UniProt ID
C0005129 Bernard-Soulier Syndrome XYLT1 64131 xylosyltransferase 1 Q86Y38
C0544755 Genu varum XYLT1 64131 xylosyltransferase 1 Q86Y38
C0027092 Myopia XYLT1 64131 xylosyltransferase 1 Q86Y38
C0026269 Mitral Valve Stenosis XYLT1 64131 xylosyltransferase 1 Q86Y38
C0016202 Flatfoot XYLT1 64131 xylosyltransferase 1 Q86Y38
C0019572 Hirsutism XYLT1 64131 xylosyltransferase 1 Q86Y38
C0029408 Degenerative polyarthritis XYLT1 64131 xylosyltransferase 1 Q86Y38
C0026277 Mixed Salivary Gland Tumor XYLT1 64131 xylosyltransferase 1 Q86Y38
C0020608 Hypodontia XYLT1 64131 xylosyltransferase 1 Q86Y38
C0007196 Restrictive cardiomyopathy XYLT1 64131 xylosyltransferase 1 Q86Y38
C0015300 Exophthalmos XYLT1 64131 xylosyltransferase 1 Q86Y38
C0038454 Cerebrovascular accident XYLT1 64131 xylosyltransferase 1 Q86Y38
C0948008 Ischemic stroke XYLB 9942 xylulokinase O75191
C0007131 Non-Small Cell Lung Carcinoma XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0235480 Paroxysmal atrial fibrillation XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0028754 Obesity XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0152013 Adenocarcinoma of lung (disorder) XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0004238 Atrial Fibrillation XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0684249 Carcinoma of lung XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0037369 Smoking XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0242379 Malignant neoplasm of lung XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0029456 Osteoporosis XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0027651 Neoplasms XXYLT1 152002 xyloside xylosyltransferase 1 Q8NBI6
C0268398 Familial lichen amyloidosis XPNPEP2 7512 X-prolyl aminopeptidase 2 O43895
C0085215 Ovarian Failure, Premature XPNPEP2 7512 X-prolyl aminopeptidase 2 O43895

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Last updated: August 19, 2024