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
Displaying entries 4726 - 4750 of 62743 in total
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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