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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 GeneticVariation group BEFREE Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. 24791901 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 Biomarker group HPO