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 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: 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: 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: 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: 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: 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
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: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation disease CLINVAR
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.100 CausalMutation disease CLINVAR
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE Participants (N = 529; 45.9% male; M<sub>age</sub> = 38.23, SD = 13.56) included treatment-seeking smokers who received either a 4-session integrated anxiety-reduction and smoking cessation intervention (Smoking Treatment and Anxiety Management Program; [STAMP]) or a 4-session standard smoking cessation program (SCP). 29683703 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE We conducted a bioinformatics analysis using the QIIME pipeline and the Calypso, linear discriminant analysis effect size, Phylogenetic Investigation of Communities by Reconstruction of Unobserved States, and STAMP tools on publicly available 16S bacterial rRNA sequencing data from terminal ileum mucosal biopsies of healthy controls and the 3 subphenotypes of Crohn's disease. 30346536 2019
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: C0267454
Disease: Necrotic enteritis
Necrotic enteritis 		0.010 Biomarker disease BEFREE Further analyses of metagenomeSeq, STAMP, and LEfSe consistently showed significant overgrowth of Clostridium sensu stricto 1 was associated with NE. 31150394 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 Biomarker disease BEFREE Here, we review the current biology of the STAMP proteins and how they may be implicated in disease states including cancer and metabolic syndrome. 20924965 2010
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE These preliminary findings suggest that further studies of STAMP in ovarian cancer may yield insight into ovarian cancer proliferation and may be useful in the development of biomarker panels. 20374646 2010