Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0009806
Disease: Constipation
Constipation
0.400 Biomarker GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938

2016

Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0009806
Disease: Constipation
Constipation
0.400 Biomarker HPO

Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
CUI: C0009806
Disease: Constipation
Constipation
0.340 Biomarker BEFREE The combination of MOR agonists with non-MOR agonists may increase the analgesic potency of MOR agonists, reduce the development of tolerance and dependence, reduce the diversion and abuse, overdose, and reduce other clinically significant side effects associated with prolonged opioid use such as constipation. 31029588

2019

Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
CUI: C0009806
Disease: Constipation
Constipation
0.340 Biomarker BEFREE Peripherally acting μ-opioid receptor antagonists as treatment options for constipation in noncancer pain patients on chronic opioid therapy. 28176913

2017

Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
CUI: C0009806
Disease: Constipation
Constipation
0.340 Biomarker BEFREE μ-Opioid receptor (MOR) agonists are analgesics used clinically for the treatment of moderate to severe pain, but their use is associated with severe adverse effects such as respiratory depression, constipation, tolerance, dependence, and rewarding effects. 27776274

2017

Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
CUI: C0009806
Disease: Constipation
Constipation
0.340 Biomarker BEFREE While a variety of prescribed or over-the-counter (OTC) medications are available for pain management, opioid medications, especially those acting on the μ-opioid receptor (μOR) and related pathways, have proven to be the most effective, despite some serious side effects including respiration depression, pruritus, dependence, and constipation. 28935293

2017

Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
CUI: C0009806
Disease: Constipation
Constipation
0.340 Biomarker CTD_human Synthetic and Receptor Signaling Explorations of the Mitragyna Alkaloids: Mitragynine as an Atypical Molecular Framework for Opioid Receptor Modulators. 27192616

2016

Entrez Id: 2641
Gene Symbol: GCG
GCG
CUI: C0009806
Disease: Constipation
Constipation
0.310 Biomarker BEFREE Glucagon-like peptide-1 (GLP-1) is beneficial in relieving pain-related symptoms of Irritable bowel syndrome (IBS), a prevalent, multi-factorial functional bowel disorder characterized by diarrhea and/or constipation, abdominal bloating, and pain. 31602785

2020

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0009806
Disease: Constipation
Constipation
0.310 Biomarker BEFREE Previous history of ACTH use and constipation during KD treatment are important factors that affect the efficacy of KD treatment. 30497921

2019

Entrez Id: 2641
Gene Symbol: GCG
GCG
CUI: C0009806
Disease: Constipation
Constipation
0.310 Biomarker CTD_human Prolonged gastrointestinal transit in a patient with a glucagon-like peptide (GLP)-1- and -2-producing neuroendocrine tumor. 12107204

2002

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0009806
Disease: Constipation
Constipation
0.310 Therapeutic CTD_human ACTH-(1-24) antagonizes the cholestatic and constipating effects of morphine. 3421781

1988

Entrez Id: 9969
Gene Symbol: MED13
MED13
CUI: C0009806
Disease: Constipation
Constipation
0.300 Biomarker GENOMICS_ENGLAND De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 29740699

2018

Entrez Id: 151306
Gene Symbol: GPBAR1
GPBAR1
CUI: C0009806
Disease: Constipation
Constipation
0.300 Biomarker CTD_human The receptor TGR5 mediates the effects of BAs on colonic motility, and deficiency of TGR5 causes constipation in mice. 23041323

2013

Entrez Id: 5444
Gene Symbol: PON1
PON1
CUI: C0009806
Disease: Constipation
Constipation
0.300 Biomarker CTD_human Relation of PON1 and CYP1A1 genetic polymorphisms to clinical findings in a cross-sectional study of a Greek rural population professionally exposed to pesticides. 19022366

2009

Entrez Id: 2668
Gene Symbol: GDNF
GDNF
CUI: C0009806
Disease: Constipation
Constipation
0.130 AlteredExpression BEFREE Further results showed that LP-CQPC02-FSM upregulated cuprozinc-superoxide dismutase (Cu/Zn-SOD), manganese superoxide dismutase (Mn-SOD), catalase (CAT), c-Kit, stem cell factor (SCF), glial cell-derived neurotrophic factor (GDNF), neuronal nitric oxide synthase (nNOS), endothelial nitric oxide synthase (eNOS), and aquaporin-9 (AQP9) and downregulated the expression levels of transient receptor potential cation channel subfamily V member 1 (TRPV1), inducible nitric oxide synthase (iNOS), and aquaporin-3 (AQP3) in the constipated mice. 31621475

2019

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0009806
Disease: Constipation
Constipation
0.130 GeneticVariation BEFREE Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka. 30642858

2019

Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0009806
Disease: Constipation
Constipation
0.130 GeneticVariation BEFREE Generalized linear univariate model analysis performed on the opiate-induced constipation-associated SNPs and a single CHRM3 SNP revealed an association between anticholinergic symptoms and a score of 8 SNPs (adjusted P = 0.038, permuted P = 0.002). 29620694

2018

Entrez Id: 2668
Gene Symbol: GDNF
GDNF
CUI: C0009806
Disease: Constipation
Constipation
0.130 AlteredExpression BEFREE Reverse transcription-polymerase chain reaction and western blot experiments demonstrated that LP-YS3 upregulated c-Kit, stem cell factor, and glial cell line-derived neurotrophic factor mRNA and protein expression and downregulated transient receptor potential vanilloid 1 and nitric oxide synthase expression in small intestine tissue from constipated mice. 29757072

2018

Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0009806
Disease: Constipation
Constipation
0.130 Biomarker BEFREE The control and constipation group received 1× PBS under the same pattern. 30122898

2018

Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0009806
Disease: Constipation
Constipation
0.130 Biomarker BEFREE Excess risk of IC/PBS was observed in the first- and second-degree relatives in probands with myalgia and myositis/unspecified (fibromyalgia) and in probands with constipation. 25349937

2016

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0009806
Disease: Constipation
Constipation
0.130 GeneticVariation BEFREE Larger numbers of patients need to be studied to investigate whether low SP is primarily associated with the constipation or RET mutation and if it is a common feature of MEN 2B. 16481266

2006

Entrez Id: 2668
Gene Symbol: GDNF
GDNF
CUI: C0009806
Disease: Constipation
Constipation
0.130 GeneticVariation BEFREE Mutation of RET or glial cell-derived neurotrophic factor is not a frequent cause of idiopathic slow-transit constipation. 10859088

2000

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0009806
Disease: Constipation
Constipation
0.130 GeneticVariation BEFREE Mutation of RET or glial cell-derived neurotrophic factor is not a frequent cause of idiopathic slow-transit constipation. 10859088

2000

Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
CUI: C0009806
Disease: Constipation
Constipation
0.130 Biomarker HPO

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0009806
Disease: Constipation
Constipation
0.130 CausalMutation CLINVAR