Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.400 CausalMutation phenotype CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.400 Biomarker phenotype CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.400 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.110 GeneticVariation phenotype BEFREE Increased incidences of inguinal hernia have been reported in patients with 22q11.2 microdeletion syndrome, which is mainly caused by TBX1 gene mutations. 24295890 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.110 GeneticVariation phenotype BEFREE We aimed to evaluate whether the functional Sp1 binding site polymorphism within intron 1 of the collagen type I, alpha 1 (COL1A1) gene was associated specifically with inguinal hernia disease. 23925543 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype BEFREE Disorders of the microfibril, elastin, collagen, and the glycosaminoglycan component of the extracellular matrix can result in an increase in the likelihood of inguinal hernia. 19573673 2009
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.110 GeneticVariation phenotype BEFREE In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias. 17935237 2007
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.110 Biomarker phenotype BEFREE The alpha 1(I)/alpha 1(III) collagen ratios were shown to be 6.3 +/- 0.34 in fibroblasts from control individuals and 3.0 +/- 0.25 in fibroblasts from patients with inguinal hernias. 7710461 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.110 Biomarker phenotype HPO
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.110 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.110 Biomarker phenotype HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.110 Biomarker phenotype HPO
Entrez Id: 51352
Gene Symbol: WT1-AS
WT1-AS 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. 26686553 2015
Entrez Id: 64641
Gene Symbol: EBF2
EBF2 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. 26686553 2015
Entrez Id: 64220
Gene Symbol: STRA6
STRA6 		0.100 Biomarker phenotype HPO
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		0.100 Biomarker phenotype HPO
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.100 Biomarker phenotype HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.100 Biomarker phenotype HPO
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP 		0.100 Biomarker phenotype HPO
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.100 Biomarker phenotype HPO
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.100 Biomarker phenotype HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker phenotype HPO
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.100 Biomarker phenotype HPO
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		0.100 Biomarker phenotype HPO