×
Entrez Id:
2077
Gene Symbol:
ERF
ERF
0.400
Biomarker
disease
CTD_human
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
23354439
2013
×
Entrez Id:
80199
Gene Symbol:
FUZ
FUZ
0.400
GermlineCausalMutation
disease
ORPHANET
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
21840926
2011
×
Entrez Id:
2077
Gene Symbol:
ERF
ERF
0.400
Biomarker
disease
HPO
×
Entrez Id:
80199
Gene Symbol:
FUZ
FUZ
0.400
Biomarker
disease
HPO
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.110
GeneticVariation
disease
BEFREE
The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malformation , were detected more frequently in TWIST1 patients than in FGFR3 p.P250R patients.
22544111
2012
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.110
Biomarker
disease
HPO
×
Entrez Id:
3984
Gene Symbol:
LIMK1
LIMK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
6497
Gene Symbol:
SKI
SKI
0.100
Biomarker
disease
HPO
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.100
Biomarker
disease
HPO
×
Entrez Id:
55159
Gene Symbol:
RFWD3
RFWD3
0.100
Biomarker
disease
HPO
×
Entrez Id:
23592
Gene Symbol:
LEMD3
LEMD3
0.100
Biomarker
disease
HPO
×
Entrez Id:
9031
Gene Symbol:
BAZ1B
BAZ1B
0.100
Biomarker
disease
HPO
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.100
Biomarker
disease
HPO
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
0.100
Biomarker
disease
HPO
×
Entrez Id:
11128
Gene Symbol:
POLR3A
POLR3A
0.100
Biomarker
disease
HPO
×
Entrez Id:
5982
Gene Symbol:
RFC2
RFC2
0.100
Biomarker
disease
HPO
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1108
Gene Symbol:
CHD4
CHD4
0.100
Biomarker
disease
HPO
×
Entrez Id:
64840
Gene Symbol:
PORCN
PORCN
0.100
Biomarker
disease
HPO
×
Entrez Id:
6651
Gene Symbol:
SON
SON
0.100
Biomarker
disease
HPO
×
Entrez Id:
51339
Gene Symbol:
DACT1
DACT1
0.100
Biomarker
disease
HPO
×
Entrez Id:
5447
Gene Symbol:
POR
POR
0.100
Biomarker
disease
HPO
×
Entrez Id:
6309
Gene Symbol:
SC5D
SC5D
0.100
Biomarker
disease
HPO