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: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE Those cancers with the greatest apparent changes in STAMP mRNA were pursued in cultured cancer cell lines. 20374646 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE Those cancers with the greatest apparent changes in STAMP mRNA were pursued in cultured cancer cell lines. 20374646 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group 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: 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: 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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group 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: 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: 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: 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: 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: 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
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		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
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		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