RBM10, RNA binding motif protein 10, 8241

N. diseases: 99; N. variants: 8
Disease: Persistent left superior vena cava ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava 		0.110 GeneticVariation disease BEFREE The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. 24259342 2014
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava 		0.110 Biomarker disease HPO