×
Entrez Id:
10655
Gene Symbol:
DMRT2
DMRT2
0.010
GeneticVariation
disease
BEFREE
Therefore, it seems plausible that mutations in DMRT2 are associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies.
29681102
2018
×
Entrez Id:
2317
Gene Symbol:
FLNB
FLNB
0.010
GeneticVariation
disease
BEFREE
This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies .
28145000
2017
×
Entrez Id:
8643
Gene Symbol:
PTCH2
PTCH2
0.010
GeneticVariation
disease
BEFREE
Here, we report a 13-year-old girl diagnosed with NBCCS based on multiple keratocystic odontogenic tumors and rib anomalies carrying a frameshift mutation in the PTCH2 gene (c.1172_1173delCT ).
23479190
2013
×
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