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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 |
|---|---|---|---|---|---|
| C0019196 | Hepatitis C | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C3714756 | Intellectual Disability | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0279626 | Squamous cell carcinoma of esophagus | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0752347 | Lewy Body Disease | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1565489 | Renal Insufficiency | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C4303860 | Craniofacial ulnar renal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0005745 | Blepharoptosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0041296 | Tuberculosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1306503 | Congenital exomphalos | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0149782 | Squamous cell carcinoma of lung | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0549567 | Pigmentation Disorders | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0600139 | Prostate carcinoma | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0000768 | Congenital Abnormality | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0795690 | Congenital omphalocele | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0027051 | Myocardial Infarction | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0080174 | Spina Bifida Occulta | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0011269 | Dementia, Vascular | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0024138 | Lupus Erythematosus, Discoid | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0343804 | Chronic Chagas' disease | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0243026 | Sepsis | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C1175175 | Severe Acute Respiratory Syndrome | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0035436 | Rheumatic Fever | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C1306459 | Primary malignant neoplasm | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
