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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 |
|---|---|---|---|---|---|
| C0036857 | Severe intellectual disability | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0494475 | Tonic - clonic seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0025958 | Microcephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0038379 | Strabismus | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0003811 | Cardiac Arrhythmia | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0023976 | Long QT Syndrome | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C3150943 | Long Qt Syndrome 2 | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0019196 | Hepatitis C | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0376358 | Malignant neoplasm of prostate | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
| C0024623 | Malignant neoplasm of stomach | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
| C0699791 | Stomach Carcinoma | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
| C0600139 | Prostate carcinoma | SLC35B4 | 84912 | solute carrier family 35 member B4 | Q969S0 |
| C0006142 | Malignant neoplasm of breast | TMTC4 | 84899 | transmembrane O-mannosyltransferase targeting cadherins 4 | Q5T4D3 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | TMTC4 | 84899 | transmembrane O-mannosyltransferase targeting cadherins 4 | Q5T4D3 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0017601 | Glaucoma | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3714756 | Intellectual Disability | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010964 | Dandy-Walker Syndrome | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0020255 | Hydrocephalus | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0266544 | Microcornea | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0036572 | Seizures | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0241005 | Creatine phosphokinase serum increased | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010417 | Cryptorchidism | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026850 | Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
