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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 ▼ |
|---|---|---|---|---|---|
| C0033578 | Prostatic Neoplasms | ACOX3 | 8310 | acyl-CoA oxidase 3, pristanoyl | O15254 |
| C0376358 | Malignant neoplasm of prostate | ACOX3 | 8310 | acyl-CoA oxidase 3, pristanoyl | O15254 |
| C3714756 | Intellectual Disability | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1857242 | Rhizomelic chondrodysplasia punctata, type 2 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0018995 | Hemochromatosis | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0043459 | Zellweger Syndrome | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1263846 | Attention deficit hyperactivity disorder | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0008445 | Chondrodysplasia Punctata | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0036341 | Schizophrenia | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0025958 | Microcephaly | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0004352 | Autistic Disorder | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0041671 | Attention Deficit Disorder | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0006826 | Malignant Neoplasms | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0036439 | Scoliosis, unspecified | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0345904 | Malignant neoplasm of liver | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1306459 | Primary malignant neoplasm | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0086543 | Cataract | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0002395 | Alzheimer's Disease | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C2239176 | Liver carcinoma | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0239946 | Fibrosis, Liver | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0426970 | Spastic Quadriplegia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
