IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Leber Congenital Amaurosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.300 GermlineCausalMutation disease ORPHANET Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056 2015