Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2270
Gene Symbol: FGS2
FGS2
0.010 GeneticVariation phenotype BEFREE Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome. 17632775 2007
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
0.010 GeneticVariation phenotype BEFREE The results suggest that GNB3 825T allele might be associated with IBS with constipation in Koreans. 20337945 2010
Entrez Id: 495
Gene Symbol: ATP4A
ATP4A
0.010 GeneticVariation phenotype BEFREE Among the 57.5 million individuals included, 45% received at least one reimbursement among the 130 million prescriptions reimbursed (90% prescribed by a general practitioner): proton-pump inhibitors (PPI; A02BC: 24%), drugs for functional gastrointestinal disorders (A03: 20%), drugs for constipation (A06: 10%), antidiarrheals, intestinal anti-inflammatory/anti-infective agents (A07: 10%), antiemetics and antinauseants (A04: 7%), other drugs for acid-related disorders (A02X: 6%), other drugs for peptic ulcer and gastro-oesophageal reflux disease (A02BX: 4.5%), antacids (A02A: 1.5%). 31320929 2019
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
0.010 GeneticVariation phenotype BEFREE The measures were: constipation-Constipation Scoring System (CSS) and Patient Assessment of Constipation-Symptoms (PAC-SYM); sleep-Pittsburgh Sleep Quality Index (PSQI); anxiety-General Anxiety Disorder-7 (GAD-7); depression-Patient Health Questionnaire-9 (PHQ-9); and QOL-Patient Assessment of Constipation Quality of Life (PAC-QOL) and SF-36. 28207519 2017
Entrez Id: 5915
Gene Symbol: RARB
RARB
0.010 GeneticVariation phenotype BEFREE The purpose of this report is to present a 23-month-old male with the previously described R387C RARB gain-of-function variant whose gastrointestinal issues and long-term constipation lead to the discovery of colonic hypoganglionosis. 30790422 2019
Entrez Id: 4811
Gene Symbol: NID1
NID1
0.010 GeneticVariation phenotype BEFREE This study confirms that NID type B is a form of dysganglionosis which can be diagnosed in a Mediterranean country if histochemical techniques are applied in the study of a large series of constipated and pseudo-Hirschsprung patients. 7857885 1994
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.010 GeneticVariation phenotype BEFREE Further more, we found a significant association of tumor location, tumor grade, node status, occupational exposure to pesticides and bleeding PR/Constipation with the mutation status of the SMAD4 gene (P = or < 0.05). 20565773 2010
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
0.010 GeneticVariation phenotype BEFREE Overall, 90.4% of patients in the biguanide group, 83.6% in the thiazolidinedione group, 83.6% in the alpha-glucosidase group and 85.3% in the glinide group reported one or more treatment-emergent adverse event, the most common of which were nasopharingitis, nausea and constipation. 28429860 2018
Entrez Id: 144125
Gene Symbol: OR2AG1
OR2AG1
0.010 GeneticVariation phenotype BEFREE 5-HT3 receptor antagonists were likelier to cause constipation: the pooled RR of constipation developing with 5-HT3 receptor antagonist versus placebo was 3.71 (95% CI: 2.98-4.61). 28291778 2017
Entrez Id: 479
Gene Symbol: ATP12A
ATP12A
0.010 GeneticVariation phenotype BEFREE Among the 57.5 million individuals included, 45% received at least one reimbursement among the 130 million prescriptions reimbursed (90% prescribed by a general practitioner): proton-pump inhibitors (PPI; A02BC: 24%), drugs for functional gastrointestinal disorders (A03: 20%), drugs for constipation (A06: 10%), antidiarrheals, intestinal anti-inflammatory/anti-infective agents (A07: 10%), antiemetics and antinauseants (A04: 7%), other drugs for acid-related disorders (A02X: 6%), other drugs for peptic ulcer and gastro-oesophageal reflux disease (A02BX: 4.5%), antacids (A02A: 1.5%). 31320929 2019
Entrez Id: 4923
Gene Symbol: NTSR1
NTSR1
0.010 GeneticVariation phenotype BEFREE To investigate whether pathophysiological differences exist among healthy controls (HC) and patients with slow and normal transit constipation (STC and NTC), we evaluated (1) gastrointestinal (GI) symptoms using validated questionnaires; (2) circulating concentrations of neurotensin, motilin, corticotrophin-releasing factor (CRF), and somatostatin; and (3) possible differences in frequency distribution of the neurotensin rs1800832 A/G and Neurotensin Receptor 1 rs6090453 C/G SNPs. 29082242 2017
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
0.010 GeneticVariation phenotype BEFREE This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation. 29425110 2018
Entrez Id: 998
Gene Symbol: CDC42
CDC42
0.010 GeneticVariation phenotype BEFREE Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome. 24041540 2014
Entrez Id: 6476
Gene Symbol: SI
SI
0.010 GeneticVariation phenotype BEFREE Overall, 90.4% of patients in the biguanide group, 83.6% in the thiazolidinedione group, 83.6% in the alpha-glucosidase group and 85.3% in the glinide group reported one or more treatment-emergent adverse event, the most common of which were nasopharingitis, nausea and constipation. 28429860 2018
Entrez Id: 51185
Gene Symbol: CRBN
CRBN
0.010 GeneticVariation phenotype BEFREE The presence of CRBN AA (rs6768972) or TT (rs1672753) genotypes was associated with about 333-fold and 250-fold lower risk of constipation in the course of therapy (OR = 0·003; OR = 0·004, respectively). 31115923 2019
Entrez Id: 30010
Gene Symbol: NXPH1
NXPH1
0.010 GeneticVariation phenotype BEFREE Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome. 24041540 2014
Entrez Id: 3363
Gene Symbol: HTR7
HTR7
0.010 GeneticVariation phenotype BEFREE The aim of this study was to determine whether genetic variations in the genes encoding muscarinic and serotonergic receptors (CHRM2, CHRM3, HTR2, HTR3, HTR4, and HTR7) explain the variations in incidence of constipation and anticholinergic symptoms during clozapine treatment. 29620694 2018
Entrez Id: 7067
Gene Symbol: THRA
THRA
0.400 Biomarker phenotype GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Entrez Id: 7067
Gene Symbol: THRA
THRA
0.400 Biomarker phenotype HPO
Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
0.340 Biomarker phenotype 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
0.340 Biomarker phenotype 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
0.340 Biomarker phenotype 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
0.340 Biomarker phenotype 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
0.340 Biomarker phenotype 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: 5443
Gene Symbol: POMC
POMC
0.310 Biomarker phenotype BEFREE Previous history of ACTH use and constipation during KD treatment are important factors that affect the efficacy of KD treatment. 30497921 2019