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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 ▼ |
|---|---|---|---|---|---|
| C0010417 | Cryptorchidism | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0241005 | Creatine phosphokinase serum increased | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3714756 | Intellectual Disability | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0004352 | Autistic Disorder | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0345904 | Malignant neoplasm of liver | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0028754 | Obesity | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0010346 | Crohn Disease | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C1510586 | Autism Spectrum Disorders | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0005586 | Bipolar Disorder | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0038580 | Substance Dependence | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0699790 | Colon Carcinoma | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0796004 | Kabuki make-up syndrome | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0013170 | Drug habituation | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0025362 | Mental Retardation | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0013222 | Drug Use Disorders | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0019693 | HIV Infections | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0006826 | Malignant Neoplasms | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0334463 | Malignant Fibrous Histiocytoma | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0236969 | Substance-Related Disorders | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0013146 | Drug abuse | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0020538 | Hypertensive disease | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0004936 | Mental disorders | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
