MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
Disease: CARDIAC-UROGENITAL SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 29446546 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). 30070761 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 30532227 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 29446546 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 30532227 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 CausalMutation disease CLINVAR