TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Disease: CONE-ROD DYSTROPHY 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 Biomarker disease GENOMICS_ENGLAND 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: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 GeneticVariation disease UNIPROT Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. 24791901 2014
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 CausalMutation disease CLINVAR
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 Biomarker disease CTD_human
CUI: C4014501
Disease: CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 19 		0.700 GeneticVariation disease CLINVAR