TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.110 AlteredExpression disease BEFREE Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. 28173158 2016
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.110 Biomarker disease HPO