Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.110 GeneticVariation phenotype BEFREE Age, cpRBD, chronic constipation and SNCA rs11931074 may correlate with hyposmia in Chinese PD patients. 25921825 2015
Entrez Id: 55248
Gene Symbol: PACC1
PACC1
0.010 Biomarker phenotype BEFREE The PAC-SYM questionnaire for chronic constipation: defining the minimal important difference. 28983926 2017
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
0.010 Biomarker phenotype BEFREE PEG and PEG + PM are equally effective and safe in the treatment of children with chronic constipation. 28270173 2017
Entrez Id: 7434
Gene Symbol: VIPR2
VIPR2
0.010 AlteredExpression phenotype BEFREE VIP, VIPR1, and VIPR2 mRNA expression was significantly reduced in PD/CC vs CC and controls (P<.05). 27891695 2017
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
0.010 Biomarker phenotype BEFREE A deficiency of the neurotransmitter substance P (SP) has been identified in both pediatric and adult patients with chronic constipation. 16481266 2006
Entrez Id: 8189
Gene Symbol: SYMPK
SYMPK
0.010 Biomarker phenotype BEFREE The PAC-SYM questionnaire for chronic constipation: defining the minimal important difference. 28983926 2017
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.010 Biomarker phenotype BEFREE Mizagliflozin, a novel selective SGLT1 inhibitor, exhibits potential in the amelioration of chronic constipation. 28410751 2017
Entrez Id: 794
Gene Symbol: CALB2
CALB2
0.010 Biomarker phenotype BEFREE Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation. 26230373 2016
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.110 Biomarker phenotype HPO