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 GeneticVariation disease CLINVAR
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: 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: 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: 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: 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: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. 28173158 2016
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 GeneticVariation disease BEFREE We performed a cross-sectional study comparing three published malnutrition risk screening tools (PYMS, STAMP, and STRONG<sub>kids</sub>), applying them to each inpatient aged 1 month to 17 years over a period of five consecutive weekdays in Helsinki University Hospital, Finland. 30909976 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.010 GeneticVariation disease BEFREE Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. 28356705 2017
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.010 GeneticVariation disease BEFREE The Ttll5 mutant mouse develops slow photoreceptor degeneration with early mislocalization of cone opsins, features resembling those of Rpgr-null mice. 27162334 2016
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 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: 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
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
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
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
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: 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: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO