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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 |
|---|---|---|---|---|---|
| C0009691 | Congenital cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0009691 | Congenital cataract | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009691 | Congenital cataract | GPC5 | 2262 | glypican 5 | P78333 |
| C0009691 | Congenital cataract | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0009691 | Congenital cataract | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0009691 | Congenital cataract | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0009691 | Congenital cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0009691 | Congenital cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009691 | Congenital cataract | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0009691 | Congenital cataract | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009714 | Hepatic Fibrosis, Congenital | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0009714 | Hepatic Fibrosis, Congenital | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0009714 | Hepatic Fibrosis, Congenital | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0009714 | Hepatic Fibrosis, Congenital | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0009714 | Hepatic Fibrosis, Congenital | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0009714 | Hepatic Fibrosis, Congenital | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0009714 | Hepatic Fibrosis, Congenital | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0009714 | Hepatic Fibrosis, Congenital | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0009714 | Hepatic Fibrosis, Congenital | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0009763 | Conjunctivitis | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0009763 | Conjunctivitis | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0009763 | Conjunctivitis | LGALS1 | 3956 | galectin 1 | P09382 |
| C0009763 | Conjunctivitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009763 | Conjunctivitis | CD14 | 929 | CD14 molecule | P08571 |
| C0009766 | Allergic Conjunctivitis | LGALS3 | 3958 | galectin 3 | P17931 |
