Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10131
Gene Symbol: TRAP1
TRAP1 		0.310 Biomarker disease BEFREE Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. 30887706 2019
Entrez Id: 10131
Gene Symbol: TRAP1
TRAP1 		0.310 Biomarker disease GENOMICS_ENGLAND Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. 24152966 2014
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.300 Biomarker disease GENOMICS_ENGLAND Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 12649808 2003
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.110 Biomarker disease BEFREE Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. 26294094 2015
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.110 GeneticVariation disease CLINVAR [Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 2629409 1990
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.020 Biomarker disease BEFREE This finding is supported by evidence linking all of the human disease genes for the VATER/VACTERL association identified to date, namely, FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3, with renal malformations. 26857713 2016
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.020 Biomarker disease BEFREE Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. 26294094 2015
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A 		0.010 GeneticVariation disease BEFREE The results of the present study do not support the hypothesis that high penetrant mutations in these regions of PTF1A are involved in the development of human VATER/VACTERL association or NTDs, although rare mutations may be detectable in larger patient samples. 25775927 2015
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.010 GeneticVariation disease BEFREE Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. 25131394 2014
Entrez Id: 7008
Gene Symbol: TEF
TEF 		0.010 Biomarker disease BEFREE The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. 24307608 2013
Entrez Id: 2859
Gene Symbol: GPR35
GPR35 		0.010 Biomarker disease BEFREE Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. 23549274 2013