POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Isolated somatotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.100 GeneticVariation disease CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.100 GeneticVariation disease CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419 2013
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.100 GeneticVariation disease CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442 2010