×
Entrez Id:
4617
Gene Symbol:
MYF5
MYF5
0.110
GeneticVariation
disease
BEFREE
Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies .
29887215
2018
×
Entrez Id:
4617
Gene Symbol:
MYF5
MYF5
0.110
CausalMutation
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:
4041
Gene Symbol:
LRP5
LRP5
0.100
Biomarker
disease
HPO
×
Entrez Id:
51053
Gene Symbol:
GMNN
GMNN
0.100
Biomarker
disease
HPO
×
Entrez Id:
29980
Gene Symbol:
DONSON
DONSON
0.100
Biomarker
disease
HPO
×
Entrez Id:
9871
Gene Symbol:
SEC24D
SEC24D
0.100
Biomarker
disease
HPO
×
Entrez Id:
5000
Gene Symbol:
ORC4
ORC4
0.100
Biomarker
disease
HPO
×
Entrez Id:
118429
Gene Symbol:
ANTXR2
ANTXR2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6651
Gene Symbol:
SON
SON
0.100
Biomarker
disease
HPO
×
Entrez Id:
59341
Gene Symbol:
TRPV4
TRPV4
0.100
Biomarker
disease
HPO
×
Entrez Id:
26160
Gene Symbol:
IFT172
IFT172
0.100
Biomarker
disease
HPO
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
0.100
Biomarker
disease
HPO
×
Entrez Id:
4952
Gene Symbol:
OCRL
OCRL
0.100
Biomarker
disease
HPO
×
Entrez Id:
5130
Gene Symbol:
PCYT1A
PCYT1A
0.100
Biomarker
disease
HPO
×
Entrez Id:
89891
Gene Symbol:
WDR34
WDR34
0.100
Biomarker
disease
HPO
×
Entrez Id:
55112
Gene Symbol:
WDR60
WDR60
0.100
Biomarker
disease
HPO
×
Entrez Id:
2733
Gene Symbol:
GLE1
GLE1
0.100
Biomarker
disease
HPO
×
Entrez Id:
324
Gene Symbol:
APC
APC
0.100
Biomarker
disease
HPO
×
Entrez Id:
3339
Gene Symbol:
HSPG2
HSPG2
0.100
Biomarker
disease
HPO
×
Entrez Id:
182
Gene Symbol:
JAG1
JAG1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.100
Biomarker
disease
HPO
×
Entrez Id:
392255
Gene Symbol:
GDF6
GDF6
0.100
Biomarker
disease
HPO
×
Entrez Id:
2239
Gene Symbol:
GPC4
GPC4
0.100
Biomarker
disease
HPO
×
Entrez Id:
9742
Gene Symbol:
IFT140
IFT140
0.100
Biomarker
disease
HPO