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 |
---|---|---|---|---|---|
C0585442 | Osteosarcoma of bone | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C1961835 | Gaucher Disease, Type 1 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C0038868 | Progressive supranuclear palsy | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
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 |
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 |
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 |
C0149925 | Small cell carcinoma of lung | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0006826 | Malignant Neoplasms | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0036421 | Systemic Scleroderma | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0205697 | Carcinoma, Spindle-Cell | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0027651 | Neoplasms | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0004352 | Autistic Disorder | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0009402 | Colorectal Carcinoma | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0278878 | Adult Glioblastoma | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0011849 | Diabetes Mellitus | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
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Last updated: August 19, 2024