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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 | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0036857 | Severe intellectual disability | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0036857 | Severe intellectual disability | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0036857 | Severe intellectual disability | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0036857 | Severe intellectual disability | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0036857 | Severe intellectual disability | ARSD | 414 | arylsulfatase D | P51689 |
| C0036857 | Severe intellectual disability | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0036857 | Severe intellectual disability | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0036857 | Severe intellectual disability | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0036857 | Severe intellectual disability | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0311276 | Severe malnutrition | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0311276 | Severe malnutrition | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0311276 | Severe malnutrition | SELP | 6403 | selectin P | P16109 |
| C0311276 | Severe malnutrition | CD14 | 929 | CD14 molecule | P08571 |
| C0730278 | Severe nonproliferative diabetic retinopathy | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0206724 | Sex Cord-Stromal Tumor | LGALS3 | 3958 | galectin 3 | P17931 |
| C2930619 | Sex Differentiation Disorders | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C2930619 | Sex Differentiation Disorders | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C2930619 | Sex Differentiation Disorders | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C2930619 | Sex Differentiation Disorders | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C2930619 | Sex Differentiation Disorders | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2930619 | Sex Differentiation Disorders | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C2930619 | Sex Differentiation Disorders | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2930619 | Sex Differentiation Disorders | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C2930619 | Sex Differentiation Disorders | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
