Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.520 GeneticVariation disease BEFREE The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. 30788115 2019
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease BEFREE The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia. 25479138 2015
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 GermlineCausalMutation disease ORPHANET The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia. 25479138 2015
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.520 Biomarker disease CTD_human In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.520 SusceptibilityMutation disease ORPHANET In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.520 GeneticVariation disease BEFREE In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.520 Biomarker disease BEFREE In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.520 SusceptibilityMutation disease ORPHANET In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.520 Biomarker disease CTD_human In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 GeneticVariation disease BEFREE To assess whether some functional polymorphisms in the nNOS, iNOS, or eNOS genes are involved in susceptibility to suffer from achalasia. 16848803 2006
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Nephrogenic diabetes insipidus in mice lacking all nitric oxide synthase isoforms. 16024729 2005
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Cortical interneurons become activated by deafferentation and instruct the apoptosis of pyramidal neurons. 15381772 2004
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Attenuation of activity-induced increases in cerebellar blood flow in mice lacking neuronal nitric oxide synthase. 12623792 2003
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Vasculoprotective roles of neuronal nitric oxide synthase. 12397095 2002
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.520 GeneticVariation disease BEFREE All of the women and 66.7% of the men with achalasia and the DQB1*0603 allele or the DQA1*0103-DQB1*0603 heterodimer were positive for antibodies. 11837716 2002
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Lower esophageal sphincter is achalasic in nNOS(-/-) and hypotensive in W/W(v) mutant mice. 11438492 2001
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Carbon monoxide and nitric oxide as coneurotransmitters in the enteric nervous system: evidence from genomic deletion of biosynthetic enzymes. 10677545 2000
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Infarct size and nitric oxide synthase in murine myocardium. 10652188 2000
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Mice with gene disruption of both endothelial and neuronal nitric oxide synthase exhibit insulin resistance. 10905473 2000
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Nocturnal motor coordination deficits in neuronal nitric oxide synthase knock-out mice. 10077313 1999
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Leukocyte-endothelial cell interactions in nitric oxide synthase-deficient mice. 10362674 1999
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Neuronal NOS provides nitrergic inhibitory neurotransmitter in mouse lower esophageal sphincter. 10444441 1999
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Absence of cerebellar long-term depression in mice lacking neuronal nitric oxide synthase. 10456061 1999
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Effects of nitric oxide synthase gene knockout on neurotransmitter release in vivo. 9692709 1998
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		0.520 Biomarker disease MGD Striatal malonate lesions are attenuated in neuronal nitric oxide synthase knockout mice. 8667023 1996