MYEF2, myelin expression factor 2, 50804

N. diseases: 7; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.100 GeneticVariation phenotype GWASCAT Identification of a novel locus associated with skin colour in African-admixed populations. 28300201 2017
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		0.100 CausalMutation disease CLINVAR
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.100 GeneticVariation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE The role of the MEF-2 family of transcription factors in the development has been investigated in various cell types, and the evolving alterations in this family of transcription factors have resulted in a diverse and wide spectrum of disease phenotypes, ranging from cancer to infection. 31105874 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE This review provides a comprehensive account on MEF-2 isoforms (A-D) from their respective localization, signaling, role in development and tumorigenesis as well as their association with histone deacetylases (HDACs), which can be exploited for therapeutic intervention. 31105874 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE The role of the MEF-2 family of transcription factors in the development has been investigated in various cell types, and the evolving alterations in this family of transcription factors have resulted in a diverse and wide spectrum of disease phenotypes, ranging from cancer to infection. 31105874 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.010 GeneticVariation disease BEFREE The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. 8521556 1995