EFCAB7, EF-hand calcium binding domain 7, 84455

N. diseases: 1; N. variants: 0
Disease: Ellis-Van Creveld Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.010 GeneticVariation disease BEFREE Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. 26748586 2016