Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
Singleton Merten syndrome	C0432254	IFIH1	Causal Pathogenic evidence from ClinVar	25542954, 25620204	ClinVar
Singleton Merten syndrome	C0432254	DDX58	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	25620203	-
Singleton-Merten dysplasia	85191	IFIH1	Causal Pathogenic evidence from ClinVar	-	ClinVar
Singleton-Merten dysplasia	85191	DDX58	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	-	-
SINGLETON-MERTEN SYNDROME 1	C4225427	IFIH1	Causal Pathogenic evidence from ClinVar	25542954, 25620204, 28319323	ClinVar
SINGLETON-MERTEN SYNDROME 1	C4225427	DDX58	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	25620203	-
SINGLETON-MERTEN SYNDROME 2	C4225380	DDX58	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	25620203	-

Singleton merten syndrome