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 |
---|---|---|---|---|---|
C3714756 | Intellectual Disability | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0008925 | Cleft Palate | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0013421 | Dystonia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0018818 | Ventricular Septal Defects | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0027066 | Myoclonus | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0013274 | Patent ductus arteriosus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0015310 | Exotropia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0025958 | Microcephaly | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0041960 | Ureterocele | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0027066 | Myoclonus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C3714756 | Intellectual Disability | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0016522 | Foramen Ovale, Patent | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0085583 | Choreoathetosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0028738 | Nystagmus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0029124 | Optic Atrophy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0027051 | Myocardial Infarction | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0036572 | Seizures | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0038379 | Strabismus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C1720189 | Episodic Ataxia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0003864 | Arthritis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0020295 | Hydronephrosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0042580 | Vesico-Ureteral Reflux | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0014544 | Epilepsy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
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Last updated: August 19, 2024