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 54051 - 54075 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C0700095 Central neuroblastoma POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1510586 Autism Spectrum Disorders POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0878544 Cardiomyopathies POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0410174 Fukuyama Type Congenital Muscular Dystrophy POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0456909 Blindness POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0854723 Retinal Dystrophies POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0079541 Holoprosencephaly POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1261470 Congenital meningocele POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0028738 Nystagmus POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0020302 Hydrophthalmos POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0266544 Microcornea POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0037822 Speech Disorders POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0085636 Photophobia POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C2875316 Myotubular (centronuclear) myopathy POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1531647 Cerebral ventriculomegaly POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0338502 Hypoplasia of the optic nerve POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0017601 Glaucoma POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0035304 Retinal Degeneration POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0020459 Hyperinsulinism POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0002395 Alzheimer's Disease ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185
C0021051 Immunologic Deficiency Syndromes ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185
C0009402 Colorectal Carcinoma ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185
C1458155 Mammary Neoplasms ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185
C0017638 Glioma ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185
C0027651 Neoplasms ST8SIA1 6489 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Q92185

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