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: 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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
0.300 GermlineCausalMutation disease ORPHANET Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. 24791901 2014
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis
0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
Polyarthritis, Juvenile, Rheumatoid Factor Negative
0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
Polyarthritis, Juvenile, Rheumatoid Factor Positive
0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
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: 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
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.110 Biomarker disease HPO
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
CUI: C0489786
Disease: Height
Height
0.100 GeneticVariation phenotype GWASDB Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
CUI: C0009398
Disease: Color vision defect
Color vision defect
0.100 Biomarker phenotype HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.100 CausalMutation disease CLINVAR
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
Encephaloclastic Proliferative Vasculopathy
0.100 CausalMutation disease CLINVAR
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
0.100 Biomarker phenotype HPO