Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
0.100 GeneticVariation phenotype CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7874
Gene Symbol: USP7
USP7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
0.090 GeneticVariation phenotype 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: 4295
Gene Symbol: MLN
MLN
0.050 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: 2984
Gene Symbol: GUCY2C
GUCY2C
0.030 GeneticVariation phenotype BEFREE Linaclotide, a guanylate cyclase-C (GC-C) agonist, relieves abdominal pain and bowel symptoms in adult patients suffering from IBS with constipation. 29797376 2018
Entrez Id: 6750
Gene Symbol: SST
SST
0.030 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: 6532
Gene Symbol: SLC6A4
SLC6A4
0.030 GeneticVariation phenotype BEFREE This seemed to be related to a reduction in the frequency of the 5-HTTLPR (ss) genotype in male patients, particularly those with IBS-D [IBS-D 10%, IBS-C 25%, controls 37.5%; P=0.01 for IBS-D vs. controls; odds ratio (95% confidence interval) for 5-HTTLPR (ss) vs. 5-HTTLPR (non-ss)=0.185 (0.046-0.744)] than in female patients (IBS-D 19.4%, IBS-C 13.8%, controls 16.7%). 19561511 2010
Entrez Id: 2166
Gene Symbol: FAAH
FAAH
0.030 GeneticVariation phenotype BEFREE Dronabinol affected fasting distal MI in patients, regardless of FAAH rs324420 variant (CA/AA vs CC) (P = .046); the greatest effects were observed among IBS with constipation patients with the FAAH CC variant (P = .045). 21803011 2011
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.030 GeneticVariation phenotype BEFREE Familial mutations in GC-C cause chronic diarrheal disease or constipation and are associated with intestinal inflammation and infection. 24244444 2013
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.030 GeneticVariation phenotype BEFREE These groups were compared with respect to gene polymorphism, and it was found that the 5-HTTLPR allele S/S genotype occurred with greater frequency in the constipation predominant group than in the other two subgroups (p < 0.05), and L/S genotype frequency in the diarrhea predominant group was higher than those in the constipation and control groups. 12135035 2002
Entrez Id: 4922
Gene Symbol: NTS
NTS
0.020 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: 5697
Gene Symbol: PYY
PYY
0.020 GeneticVariation phenotype BEFREE Strumal and trabecular types are associated with peptide YY (PYY) production, which may cause constipation. 26630222 2016
Entrez Id: 4922
Gene Symbol: NTS
NTS
0.020 GeneticVariation phenotype BEFREE Interestingly, at the dose providing 90% pain relief, the co-administration of morphine with An2-NT(8-13) had a reduced effect on constipation. 30707956 2019
Entrez Id: 6781
Gene Symbol: STC1
STC1
0.020 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: 1108
Gene Symbol: CHD4
CHD4
0.010 GeneticVariation phenotype BEFREE In the long-term follow-up, including 32 patients (6 with CHD), constipation was more commonly reported by children with CHD 5 (83%) than by children without CHD 4 (27%) (<i>p</i> = 0.01). 28373976 2017
Entrez Id: 152
Gene Symbol: ADRA2C
ADRA2C
0.010 GeneticVariation phenotype BEFREE Functionally distinct alpha(2A) and alpha(2C) adrenoceptor and serotonin transporter polymorphisms are associated with constipation and high somatic symptoms in patients with lower functional gastrointestinal disorders, although the strength of the genetic contribution to the phenotype is unclear. 15138209 2004
Entrez Id: 2693
Gene Symbol: GHSR
GHSR
0.010 GeneticVariation phenotype BEFREE Future Treatment of Constipation-associated Disorders: Role of Relamorelin and Other Ghrelin Receptor Agonists. 28238253 2017