×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
0.100
Biomarker
disease
HPO
×
Entrez Id:
22858
Gene Symbol:
CILK1
CILK1
0.300
Biomarker
disease
GENOMICS_ENGLAND
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
19185282
2009
×
Entrez Id:
90993
Gene Symbol:
CREB3L1
CREB3L1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.100
Biomarker
disease
HPO
×
Entrez Id:
29980
Gene Symbol:
DONSON
DONSON
0.100
Biomarker
disease
HPO
×
Entrez Id:
1855
Gene Symbol:
DVL1
DVL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1857
Gene Symbol:
DVL3
DVL3
0.100
Biomarker
disease
HPO
×
Entrez Id:
9775
Gene Symbol:
EIF4A3
EIF4A3
0.100
Biomarker
disease
HPO
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.100
Biomarker
disease
HPO
×
Entrez Id:
10082
Gene Symbol:
GPC6
GPC6
0.100
Biomarker
disease
HPO
×
Entrez Id:
57560
Gene Symbol:
IFT80
IFT80
0.100
Biomarker
disease
HPO
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
0.400
Biomarker
disease
GENOMICS_ENGLAND
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
29068549
2018
×
Entrez Id:
3930
Gene Symbol:
LBR
LBR
0.400
Biomarker
disease
HPO
×
Entrez Id:
4750
Gene Symbol:
NEK1
NEK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
64359
Gene Symbol:
NXN
NXN
0.100
Biomarker
disease
HPO
×
Entrez Id:
5745
Gene Symbol:
PTH1R
PTH1R
0.100
Biomarker
disease
HPO
×
Entrez Id:
6023
Gene Symbol:
RMRP
RMRP
0.100
Biomarker
disease
HPO
×
Entrez Id:
4920
Gene Symbol:
ROR2
ROR2
0.110
Biomarker
disease
BEFREE
Mesomelic limb shortening in Ror2 (-/-) mice is a consequence of perturbed chondrocyte differentiation.
14745966
2004
×
Entrez Id:
4920
Gene Symbol:
ROR2
ROR2
0.110
Biomarker
disease
HPO
×
Entrez Id:
6469
Gene Symbol:
SHH
SHH
0.010
GeneticVariation
disease
BEFREE
Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of SHH .
24478176
2014
×
Entrez Id:
6473
Gene Symbol:
SHOX
SHOX
0.110
Biomarker
disease
HPO
×
Entrez Id:
6473
Gene Symbol:
SHOX
SHOX
0.110
Biomarker
disease
BEFREE
The results suggest that, in individuals with SHOX haploinsufficiency and normal ovarian function, auxological abnormalities related to mesomelia are evident from childhood and worsen further during puberty because of the skeletal maturing effects of ovarian estrogens.
14514349
2003
×
Entrez Id:
23387
Gene Symbol:
SIK3
SIK3
0.100
Biomarker
disease
HPO
×
Entrez Id:
6913
Gene Symbol:
TBX15
TBX15
0.100
Biomarker
disease
HPO