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 52976 - 53000 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C0025958 Microcephaly POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0029124 Optic Atrophy POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0035305 Retinal Detachment POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0026010 Microphthalmos POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C1531647 Cerebral ventriculomegaly POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
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
C0235946 Cerebral atrophy COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0029463 Osteosarcoma COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0027404 Narcolepsy COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0302892 Congenital porencephaly COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C4082173 Porencephaly COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0036572 Seizures COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0585442 Osteosarcoma of bone COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0796154 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C1332986 Childhood Osteosarcoma COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0426970 Spastic Quadriplegia COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5

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Last updated: August 19, 2024