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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 |
|---|---|---|---|---|---|
| C0006267 | Bronchiectasis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0003873 | Rheumatoid Arthritis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0206062 | Lung Diseases, Interstitial | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0035204 | Respiration Disorders | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0243026 | Sepsis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0004153 | Atherosclerosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0262655 | Recurrent urinary tract infection | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C1535939 | Pneumocystis jiroveci pneumonia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0006826 | Malignant Neoplasms | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0017168 | Gastroesophageal reflux disease | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0264490 | Acute respiratory failure | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721508 | Hamman-Rich Disease | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0020459 | Hyperinsulinism | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0029882 | Otitis Media | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0085786 | Hamman-Rich syndrome | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0007137 | Squamous cell carcinoma | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0009451 | Communicating Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026848 | Myopathy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
