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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | HPSE | 10855 | heparanase | Q9Y251 |
| 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 |
| C1848336 | Dent disease 1 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1848586 | Visceral myopathy familial external ophthalmoplegia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C1848599 | VACTERL Association With Hydrocephalus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | STS | 412 | steroid sulfatase | P08842 |
| C1848745 | Oliver-McFarlane syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
