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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0002395 | Alzheimer's Disease | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0008925 | Cleft Palate | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0080174 | Spina Bifida Occulta | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0010674 | Cystic Fibrosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0019196 | Hepatitis C | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0302592 | Cervix carcinoma | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0036439 | Scoliosis, unspecified | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0010278 | Craniosynostosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0005745 | Blepharoptosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C3714756 | Intellectual Disability | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0242383 | Age related macular degeneration | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0948008 | Ischemic stroke | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0027051 | Myocardial Infarction | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C1384666 | hearing impairment | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0022283 | Incontinentia Pigmenti Achromians | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0011847 | Diabetes | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0549567 | Pigmentation Disorders | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0018817 | Atrial Septal Defects | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C4303860 | Craniofacial ulnar renal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0011849 | Diabetes Mellitus | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C1565489 | Renal Insufficiency | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0041327 | Tuberculosis, Pulmonary | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
C0035078 | Kidney Failure | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
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Last updated: August 19, 2024