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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 |
|---|---|---|---|---|---|
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CAT | 847 | catalase | P04040 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | GPX2 | 2877 | glutathione peroxidase 2 | P18283 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1848201 | Subcortical Band Heterotopia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1848201 | Subcortical Band Heterotopia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1848201 | Subcortical Band Heterotopia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1848201 | Subcortical Band Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1848201 | Subcortical Band Heterotopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1848200 | SUBCORTICAL BAND HETEROTOPIA, X-LINKED | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1848200 | SUBCORTICAL BAND HETEROTOPIA, X-LINKED | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1848200 | SUBCORTICAL BAND HETEROTOPIA, X-LINKED | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1848199 | X-Linked Lissencephaly | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1848199 | X-Linked Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1848172 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1848030 | Hypotonia-Cystinuria Syndrome | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1847800 | Waardenburg Syndrome Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | DAG1 | 1605 | dystroglycan 1 | Q14118 |
