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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 |
| Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0020651 | Hypotension, Orthostatic | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0021122 | Disruptive, Impulse Control, and Conduct Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0162635 | Angelman Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0278510 | Childhood Medulloblastoma | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C0002395 | Alzheimer's Disease | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C0235974 | Pancreatic carcinoma | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C1306459 | Primary malignant neoplasm | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C0027651 | Neoplasms | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C0006826 | Malignant Neoplasms | PAFAH1B2 | 5049 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | P68402 |
| C3714756 | Intellectual Disability | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0025362 | Mental Retardation | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C1956346 | Coronary Artery Disease | PAFAH2 | 5051 | platelet activating factor acetylhydrolase 2 | Q99487 |
| C0006826 | Malignant Neoplasms | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C2239176 | Liver carcinoma | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0007131 | Non-Small Cell Lung Carcinoma | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C1306459 | Primary malignant neoplasm | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0019163 | Hepatitis B | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C0027651 | Neoplasms | PAPSS1 | 9061 | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 | O43252 |
| C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0000768 | Congenital Abnormality | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0220726 | Diastrophic dysplasia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0003128 | Anovulation | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
