STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.100 GeneticVariation group GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		0.300 Biomarker disease CTD_human Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease BEFREE We investigated whether six genetic variants previously associated with LTL (TERC (rs10936599), TERT (rs2736100), NAF1 (7675998), OBFC1 (rs9420907), ZNF208 (rs8105767), and RTEL1 (rs755017)) are correlated with telomere length (TL) in peripheral blood mononuclear cells (PBMCs) in a cohort of Africans living with and without HIV and undergoing evaluation for tuberculosis (TB). 31388112 2019
CUI: C1836777
Disease: TELOMERE LENGTH, MEAN LEUKOCYTE
TELOMERE LENGTH, MEAN LEUKOCYTE 		0.010 GeneticVariation disease BEFREE Association of TERC and OBFC1 haplotypes with mean leukocyte telomere length and risk for coronary heart disease. 24349443 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 GeneticVariation disease BEFREE We found an association of SSc with the SNP rs6793295 in the LRRC34 gene (OR = 1.14, CI 95 % 1.03 to 1.25, p value = 0.009) and rs11191865 in the OBFC1 gene (OR = 1.09, CI 95 % 1.00 to 1.19, p value = 0.043) in the discovery cohort. 26792595 2016
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		0.100 Biomarker disease HPO
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		0.100 Biomarker phenotype HPO
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
CUI: C0034642
Disease: Rales
Rales 		0.100 Biomarker phenotype HPO
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.100 Biomarker disease HPO
CUI: C0263498
Disease: Premature canities
Premature canities 		0.100 Biomarker phenotype HPO
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		0.100 Biomarker disease HPO
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Small interfering RNA-mediated depletion of AAF-44 in tumor cell lines inhibited [methyl-(3)H]thymidine uptake into DNA but did not affect cell viability. 19119139 2009
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE Telomere length and three polymorphisms, TERT, TERC and OBFC1, were measured in 67 306 individuals aged 20-100 years from the Danish general population and associated with register-based attendance at hospital for depression and purchase of antidepressant medication. 27810892 2017