EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 Biomarker disease BEFREE EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). 28027321 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 Biomarker disease GENOMICS_ENGLAND