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 14101 - 14125 of 62743 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Gene Name UniProt ID
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
C2242776 Plexiform leiomyoma POGLUT3 143888 protein O-glucosyltransferase 3 Q7Z4H8
C0007134 Renal Cell Carcinoma POGLUT3 143888 protein O-glucosyltransferase 3 Q7Z4H8
C0005586 Bipolar Disorder POGLUT2 79070 protein O-glucosyltransferase 2 Q6UW63
C0023418 leukemia POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C3714534 dowling-degos disease POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0023467 Leukemia, Myelocytic, Acute POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C3463824 MYELODYSPLASTIC SYNDROME POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C1332977 Childhood Leukemia POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0279592 Adult T Acute Lymphoblastic Leukemia POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0007131 Non-Small Cell Lung Carcinoma POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C3810313 DOWLING-DEGOS DISEASE 4 POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0006826 Malignant Neoplasms POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C4552092 Dowling-Degos disease 1 POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0699790 Colon Carcinoma POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1

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