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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 |
|---|---|---|---|---|---|
| C0020302 | Hydrophthalmos | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0020302 | Hydrophthalmos | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0020302 | Hydrophthalmos | ARSD | 414 | arylsulfatase D | P51689 |
| C0020302 | Hydrophthalmos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020302 | Hydrophthalmos | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020295 | Hydronephrosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020295 | Hydronephrosis | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0020295 | Hydronephrosis | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0020295 | Hydronephrosis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0020295 | Hydronephrosis | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0020295 | Hydronephrosis | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0020295 | Hydronephrosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0020295 | Hydronephrosis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0020295 | Hydronephrosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0020295 | Hydronephrosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0020295 | Hydronephrosis | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0020295 | Hydronephrosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0020295 | Hydronephrosis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0020295 | Hydronephrosis | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0020295 | Hydronephrosis | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0020295 | Hydronephrosis | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0020295 | Hydronephrosis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0020295 | Hydronephrosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020295 | Hydronephrosis | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0020295 | Hydronephrosis | VNN1 | 8876 | vanin 1 | O95497 |
