CBLN2, cerebellin 2 precursor, 147381

N. diseases: 19; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.300 Biomarker phenotype CTD_human Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781 2013
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation group GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation phenotype GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.100 GeneticVariation disease GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 GeneticVariation disease BEFREE In addition to rare mutations as a monogenic cause of HPAH, common variants in the gene encoding cerebellin 2 increase the risk of PAH by approximately two-fold. 27770446 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 GeneticVariation disease BEFREE In addition to rare mutations as a monogenic cause of HPAH, common variants in cerebellin 2 (CBLN2) increase the risk of PAH by approximately twofold. 24442418 2014
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.030 AlteredExpression disease BEFREE CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs. 23502781 2013
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE Specifically, Cbln2 MHb deletions decreased spatial learning, as measured in the water T-maze, whereas Cbln4 MHb deletions increased anxiety levels, as monitored in the open field test and elevated plus maze. 30287486 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE Specifically, Cbln2 MHb deletions decreased spatial learning, as measured in the water T-maze, whereas Cbln4 MHb deletions increased anxiety levels, as monitored in the open field test and elevated plus maze. 30287486 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE In this study, we analyzed 7 PAH-causing genes including BMPR2, ACVRL1, ENG, SMAD9, CAV1, KCNK3, and CBLN2 in 49 CTEPH patients and 17 patients recovered from pulmonary embolism (PE) but without pulmonary hypertension(PH). 26820968 2016
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 Biomarker disease BEFREE In this review, we explore a previously unrecognised genetic link between TS and a competing series of trans-synaptic complexes (neurexins (NRXNs), neuroligins (NLGNs), leucine-rich repeat transmembrane proteins (LRRTMs), leucine rich repeat neuronals (LRRNs) and cerebellin precursor 2 (CBLN2)) that links it with autism spectrum disorder through neurodevelopmental pathways. 22948383 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 Biomarker group BEFREE In this review, we explore a previously unrecognised genetic link between TS and a competing series of trans-synaptic complexes (neurexins (NRXNs), neuroligins (NLGNs), leucine-rich repeat transmembrane proteins (LRRTMs), leucine rich repeat neuronals (LRRNs) and cerebellin precursor 2 (CBLN2)) that links it with autism spectrum disorder through neurodevelopmental pathways. 22948383 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE In this review, we explore a previously unrecognised genetic link between TS and a competing series of trans-synaptic complexes (neurexins (NRXNs), neuroligins (NLGNs), leucine-rich repeat transmembrane proteins (LRRTMs), leucine rich repeat neuronals (LRRNs) and cerebellin precursor 2 (CBLN2)) that links it with autism spectrum disorder through neurodevelopmental pathways. 22948383 2012