Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.510 Biomarker group GENOMICS_ENGLAND Pallister-Hall Syndrome. 29204208 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.510 Biomarker group RGD Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. 27079746 2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.510 Biomarker group BEFREE Mutational analysis of SHH and GLI3 in anorectal malformations. 18655123 2008
Entrez Id: 1044
Gene Symbol: CDX1
CDX1 		0.320 AlteredExpression group BEFREE Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. 29094201 2018
Entrez Id: 1044
Gene Symbol: CDX1
CDX1 		0.320 Biomarker group GENOMICS_ENGLAND Spatiotemporal distribution of caudal-type homeobox proteins during development of the hindgut and anorectum in human embryos. 27042391 2016
Entrez Id: 1044
Gene Symbol: CDX1
CDX1 		0.320 AlteredExpression group BEFREE Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs. 23329892 2013
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.310 Biomarker group GENOMICS_ENGLAND All investigated patients with ARM showed mobility shift aberrations and polymorphisms in the EDNRB gene. 17618893 2007
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.310 GeneticVariation group BEFREE All investigated patients with ARM showed mobility shift aberrations and polymorphisms in the EDNRB gene. 17618893 2007
Entrez Id: 3110
Gene Symbol: MNX1
MNX1 		0.310 Biomarker group GENOMICS_ENGLAND A previously unreported mutation in a Currarino syndrome kindred. 16906559 2006
Entrez Id: 3110
Gene Symbol: MNX1
MNX1 		0.310 GeneticVariation group BEFREE FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome. 14663834 2003
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		0.300 Biomarker group GENOMICS_ENGLAND De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 30905399 2019
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.300 Biomarker group GENOMICS_ENGLAND Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. 30058937 2019
Entrez Id: 64399
Gene Symbol: HHIP
HHIP 		0.300 Biomarker group GENOMICS_ENGLAND Hedgehog gene polymorphisms are associated with the risk of Hirschsprung's disease and anorectal malformation in a Chinese population. 27082974 2016
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.300 Biomarker group GENOMICS_ENGLAND X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 26683739 2016
Entrez Id: 92002
Gene Symbol: CCNQ
CCNQ 		0.300 Biomarker group GENOMICS_ENGLAND Lily's Story: STAR Syndrome. 26225595 2015
Entrez Id: 222546
Gene Symbol: RFX6
RFX6 		0.300 Biomarker group GENOMICS_ENGLAND Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 26264437 2015
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A 		0.300 Biomarker group GENOMICS_ENGLAND Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. 25174867 2014
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 51086
Gene Symbol: TNNI3K
TNNI3K 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 1016
Gene Symbol: CDH18
CDH18 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 55553
Gene Symbol: SOX6
SOX6 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
Entrez Id: 27121
Gene Symbol: DKK4
DKK4 		0.300 Biomarker group GENOMICS_ENGLAND Genome-wide copy number variation study in anorectal malformations. 23108157 2013