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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 |
|---|---|---|---|---|---|
| C1851710 | LATERAL MENINGOCELE SYNDROME | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | VCAN | 1462 | versican | P13611 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | ENO1 | 2023 | enolase 1 | P06733 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | LCT | 3938 | lactase | P09848 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1851841 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1852091 | INSULIN RESISTANCE, SUSCEPTIBILITY TO | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | DGKH | 160851 | diacylglycerol kinase eta | Q86XP1 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
