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 |
---|---|---|---|---|---|
C0152013 | Adenocarcinoma of lung (disorder) | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0010964 | Dandy-Walker Syndrome | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0079541 | Holoprosencephaly | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C3203102 | Idiopathic pulmonary arterial hypertension | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0002418 | Amblyopia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C3536714 | Renal dysplasia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C3463824 | MYELODYSPLASTIC SYNDROME | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0014553 | Absence Epilepsy | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0020490 | Hyperopia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0221356 | Brachycephaly | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0014877 | Esotropia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0009402 | Colorectal Carcinoma | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C1384666 | hearing impairment | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C4551675 | Keratoderma, Palmoplantar | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0027066 | Myoclonus | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0494475 | Tonic - clonic seizures | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0039446 | Telangiectasis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0036439 | Scoliosis, unspecified | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0020295 | Hydronephrosis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0000768 | Congenital Abnormality | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0036857 | Severe intellectual disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0271270 | Oculovestibuloauditory syndrome | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0079924 | Oligohydramnios | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0003466 | Anus, Imperforate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0008925 | Cleft Palate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
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Last updated: August 19, 2024