Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.510 Biomarker GENOMICS_ENGLAND Pallister-Hall Syndrome. 29204208

2019

Entrez Id: 1044
Gene Symbol: CDX1
CDX1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.320 Biomarker GENOMICS_ENGLAND Spatiotemporal distribution of caudal-type homeobox proteins during development of the hindgut and anorectum in human embryos. 27042391

2016

Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.310 Biomarker GENOMICS_ENGLAND All investigated patients with ARM showed mobility shift aberrations and polymorphisms in the EDNRB gene. 17618893

2007

Entrez Id: 3110
Gene Symbol: MNX1
MNX1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.310 Biomarker GENOMICS_ENGLAND A previously unreported mutation in a Currarino syndrome kindred. 16906559

2006

Entrez Id: 1024
Gene Symbol: CDK8
CDK8
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker 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
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker 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
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker 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
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker 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
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Lily's Story: STAR Syndrome. 26225595

2015

Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 26264437

2015

Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker 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
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 51086
Gene Symbol: TNNI3K
TNNI3K
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 1016
Gene Symbol: CDH18
CDH18
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 55553
Gene Symbol: SOX6
SOX6
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 27121
Gene Symbol: DKK4
DKK4
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Genome-wide copy number variation study in anorectal malformations. 23108157

2013

Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 22871
Gene Symbol: NLGN1
NLGN1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 23048
Gene Symbol: FNBP1
FNBP1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 85403
Gene Symbol: EAF1
EAF1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013

Entrez Id: 154810
Gene Symbol: AMOTL1
AMOTL1
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
0.300 Biomarker GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318

2013