×
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
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
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