×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.110
GeneticVariation
disease
BEFREE
The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2 , respectively).
16928994
2006
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.110
GeneticVariation
disease
BEFREE
The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively).
16928994
2006
×
Entrez Id:
8289
Gene Symbol:
ARID1A
ARID1A
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
23498
Gene Symbol:
HAAO
HAAO
0.100
CausalMutation
disease
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
10847
Gene Symbol:
SRCAP
SRCAP
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
1654
Gene Symbol:
DDX3X
DDX3X
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2259
Gene Symbol:
FGF14
FGF14
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
64324
Gene Symbol:
NSD1
NSD1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.110
Biomarker
disease
HPO
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
0.110
Biomarker
disease
HPO
×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
0.100
Biomarker
disease
HPO
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
Biomarker
disease
HPO
×
Entrez Id:
54880
Gene Symbol:
BCOR
BCOR
0.100
Biomarker
disease
HPO
×
Entrez Id:
633
Gene Symbol:
BGN
BGN
0.100
Biomarker
disease
HPO
×
Entrez Id:
23594
Gene Symbol:
ORC6
ORC6
0.100
Biomarker
disease
HPO
×
Entrez Id:
284098
Gene Symbol:
PIGW
PIGW
0.100
Biomarker
disease
HPO
×
Entrez Id:
374654
Gene Symbol:
KIF7
KIF7
0.100
Biomarker
disease
HPO
×
Entrez Id:
1605
Gene Symbol:
DAG1
DAG1
0.100
Biomarker
disease
HPO
×
Entrez Id:
11041
Gene Symbol:
B4GAT1
B4GAT1
0.100
Biomarker
disease
HPO
×
Entrez Id:
4088
Gene Symbol:
SMAD3
SMAD3
0.100
Biomarker
disease
HPO
×
Entrez Id:
23498
Gene Symbol:
HAAO
HAAO
0.100
Biomarker
disease
HPO
×
Entrez Id:
9215
Gene Symbol:
LARGE1
LARGE1
0.100
Biomarker
disease
HPO
×
Entrez Id:
9775
Gene Symbol:
EIF4A3
EIF4A3
0.100
Biomarker
disease
HPO
×
Entrez Id:
51053
Gene Symbol:
GMNN
GMNN
0.100
Biomarker
disease
HPO