×
Entrez Id:
92935
Gene Symbol:
MARS2
MARS2
0.110
GeneticVariation
disease
BEFREE
Identification of additional patients with single-nucleotide mutations in MARS2 is necessary to determine if pectus carinatum is also a consistent feature of this syndrome.
25754315
2015
×
Entrez Id:
1291
Gene Symbol:
COL6A1
COL6A1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2259
Gene Symbol:
FGF14
FGF14
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
23036
Gene Symbol:
ZNF292
ZNF292
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6949
Gene Symbol:
TCOF1
TCOF1
0.010
GeneticVariation
disease
BEFREE
Previously unreported pectus carinatum was noted in our case bearing a heterozygous TCOF1 mutation.
24288143
2013
×
Entrez Id:
92935
Gene Symbol:
MARS2
MARS2
0.110
Biomarker
disease
HPO
×
Entrez Id:
9373
Gene Symbol:
PLAA
PLAA
0.100
Biomarker
disease
HPO
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.100
Biomarker
disease
HPO
×
Entrez Id:
5831
Gene Symbol:
PYCR1
PYCR1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2535
Gene Symbol:
FZD2
FZD2
0.100
Biomarker
disease
HPO
×
Entrez Id:
11285
Gene Symbol:
B4GALT7
B4GALT7
0.100
Biomarker
disease
HPO
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
0.100
Biomarker
disease
HPO
×
Entrez Id:
94005
Gene Symbol:
PIGS
PIGS
0.100
Biomarker
disease
HPO
×
Entrez Id:
127833
Gene Symbol:
SYT2
SYT2
0.100
Biomarker
disease
HPO
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
Biomarker
disease
HPO
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
0.100
Biomarker
disease
HPO
×
Entrez Id:
7476
Gene Symbol:
WNT7A
WNT7A
0.100
Biomarker
disease
HPO
×
Entrez Id:
633
Gene Symbol:
BGN
BGN
0.100
Biomarker
disease
HPO
×
Entrez Id:
144568
Gene Symbol:
A2ML1
A2ML1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.100
Biomarker
disease
HPO
×
Entrez Id:
6572
Gene Symbol:
SLC18A3
SLC18A3
0.100
Biomarker
disease
HPO
×
Entrez Id:
7703
Gene Symbol:
PCGF2
PCGF2
0.100
Biomarker
disease
HPO
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
0.100
Biomarker
disease
HPO