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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C1852091 | INSULIN RESISTANCE, SUSCEPTIBILITY TO | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
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 |
C1851710 | LATERAL MENINGOCELE SYNDROME | COMT | 1312 | catechol-O-methyltransferase | P21964 |
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 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | ENO2 | 2026 | enolase 2 | P09104 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
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Last updated: August 19, 2024