×
Entrez Id:
1300
Gene Symbol:
COL10A1
COL10A1
0.110
Biomarker
phenotype
BEFREE
The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age.
30027601
2018
×
Entrez Id:
1300
Gene Symbol:
COL10A1
COL10A1
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
147965
Gene Symbol:
FAM98C
FAM98C
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
10225
Gene Symbol:
CD96
CD96
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2690
Gene Symbol:
GHR
GHR
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
27077
Gene Symbol:
B9D1
B9D1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
254863
Gene Symbol:
TMEM256
TMEM256
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
84992
Gene Symbol:
PIGY
PIGY
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
51098
Gene Symbol:
IFT52
IFT52
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4882
Gene Symbol:
NPR2
NPR2
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
100151683
Gene Symbol:
RNU4ATAC
RNU4ATAC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55764
Gene Symbol:
IFT122
IFT122
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
4054
Gene Symbol:
LTBP3
LTBP3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
9509
Gene Symbol:
ADAMTS2
ADAMTS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26227
Gene Symbol:
PHGDH
PHGDH
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
57728
Gene Symbol:
WDR19
WDR19
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
202018
Gene Symbol:
TAPT1
TAPT1
0.100
Biomarker
phenotype
HPO
TMEM256-PLSCR3
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
4882
Gene Symbol:
NPR2
NPR2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
51199
Gene Symbol:
NIN
NIN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2530
Gene Symbol:
FUT8
FUT8
0.100
Biomarker
phenotype
HPO