×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.110
Biomarker
phenotype
BEFREE
Smad4 is an intracellular effector of the TGFβ family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints .
28167493
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.110
GeneticVariation
phenotype
BEFREE
Our case suggests an expansion of LMNA allelic disorders to include distal acroosteolysis, poikiloderma and joint stiffness (DAPJ ).
26733286
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.110
GeneticVariation
phenotype
BEFREE
Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints ; hypomuscularity or hypermuscularity.
25957947
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.110
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.110
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
23345
Gene Symbol:
SYNE1
SYNE1
0.100
Biomarker
phenotype
HPO
GTF2IRD1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
285362
Gene Symbol:
SUMF1
SUMF1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
63895
Gene Symbol:
PIEZO2
PIEZO2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10436
Gene Symbol:
EMG1
EMG1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8838
Gene Symbol:
CCN6
CCN6
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
81839
Gene Symbol:
VANGL1
VANGL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
411
Gene Symbol:
ARSB
ARSB
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26191
Gene Symbol:
PTPN22
PTPN22
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3636
Gene Symbol:
INPPL1
INPPL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
118429
Gene Symbol:
ANTXR2
ANTXR2
0.100
Biomarker
phenotype
HPO