Disease: SINGLETON-MERTEN SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323 2017
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 CausalMutation disease CLINVAR Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323 2017
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 GeneticVariation disease UNIPROT A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy. 25542954 2015
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 CausalMutation disease CLINVAR A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.600 GeneticVariation disease CLINVAR