×
Entrez Id:
668
Gene Symbol:
FOXL2
FOXL2
0.100
GeneticVariation
disease
BEFREE
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.
15450400
2004
×
Entrez Id:
668
Gene Symbol:
FOXL2
FOXL2
0.100
GeneticVariation
disease
BEFREE
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
12630957
2003
×
Entrez Id:
668
Gene Symbol:
FOXL2
FOXL2
0.100
Biomarker
disease
BEFREE
Mutational analysis of forkhead transcriptional factor 2 (FOXL2 ) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
14986827
2003
×
Entrez Id:
668
Gene Symbol:
FOXL2
FOXL2
0.100
GeneticVariation
disease
BEFREE
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2 .
11960581
2001
×
Entrez Id:
1144
Gene Symbol:
CHRND
CHRND
0.100
Biomarker
disease
HPO
×
Entrez Id:
54187
Gene Symbol:
NANS
NANS
0.100
Biomarker
disease
HPO
×
Entrez Id:
168667
Gene Symbol:
BMPER
BMPER
0.100
Biomarker
disease
HPO
×
Entrez Id:
6234
Gene Symbol:
RPS28
RPS28
0.100
Biomarker
disease
HPO
×
Entrez Id:
84342
Gene Symbol:
COG8
COG8
0.100
Biomarker
disease
HPO
×
Entrez Id:
57539
Gene Symbol:
WDR35
WDR35
0.100
Biomarker
disease
HPO
×
Entrez Id:
7737
Gene Symbol:
RNF113A
RNF113A
0.100
Biomarker
disease
HPO
×
Entrez Id:
10586
Gene Symbol:
MAB21L2
MAB21L2
0.100
Biomarker
disease
HPO
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6497
Gene Symbol:
SKI
SKI
0.100
Biomarker
disease
HPO
×
Entrez Id:
2071
Gene Symbol:
ERCC3
ERCC3
0.100
Biomarker
disease
HPO
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.100
Biomarker
disease
HPO
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
0.100
Biomarker
disease
HPO
×
Entrez Id:
9841
Gene Symbol:
ZBTB24
ZBTB24
0.100
Biomarker
disease
HPO
×
Entrez Id:
161742
Gene Symbol:
SPRED1
SPRED1
0.100
Biomarker
disease
HPO
×
Entrez Id:
226
Gene Symbol:
ALDOA
ALDOA
0.100
Biomarker
disease
HPO
×
Entrez Id:
55764
Gene Symbol:
IFT122
IFT122
0.100
Biomarker
disease
HPO
×
Entrez Id:
9509
Gene Symbol:
ADAMTS2
ADAMTS2
0.100
Biomarker
disease
HPO
×
Entrez Id:
3090
Gene Symbol:
HIC1
HIC1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1663
Gene Symbol:
DDX11
DDX11
0.100
Biomarker
disease
HPO
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
0.100
Biomarker
disease
HPO