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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0000768 | Congenital Abnormality | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0036857 | Severe intellectual disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0271270 | Oculovestibuloauditory syndrome | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0079924 | Oligohydramnios | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0003466 | Anus, Imperforate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0008925 | Cleft Palate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C3714756 | Intellectual Disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0019569 | Hirschsprung Disease | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0699790 | Colon Carcinoma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C1458155 | Mammary Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0007102 | Malignant tumor of colon | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0006142 | Malignant neoplasm of breast | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0006826 | Malignant Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0017638 | Glioma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C1306459 | Primary malignant neoplasm | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0027651 | Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
C0027651 | Neoplasms | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0011849 | Diabetes Mellitus | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C1306459 | Primary malignant neoplasm | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0028754 | Obesity | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0524851 | Neurodegenerative Disorders | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C4478379 | MENTAL RETARDATION, X-LINKED 106 | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0678222 | Breast Carcinoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C3714756 | Intellectual Disability | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0006142 | Malignant neoplasm of breast | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
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Last updated: August 19, 2024