×
Entrez Id:
25
Gene Symbol:
ABL1
ABL1
0.100
CausalMutation
disease
CLINVAR
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113
2017
×
Entrez Id:
8621
Gene Symbol:
CDK13
CDK13
0.100
GeneticVariation
disease
CLINVAR
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
28807008
2017
×
Entrez Id:
51053
Gene Symbol:
GMNN
GMNN
0.100
CausalMutation
disease
CLINVAR
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
26637980
2015
×
Entrez Id:
51132
Gene Symbol:
RLIM
RLIM
0.100
Biomarker
disease
HPO
×
Entrez Id:
340419
Gene Symbol:
RSPO2
RSPO2
0.100
Biomarker
disease
HPO
×
Entrez Id:
7703
Gene Symbol:
PCGF2
PCGF2
0.100
Biomarker
disease
HPO
×
Entrez Id:
9723
Gene Symbol:
SEMA3E
SEMA3E
0.100
Biomarker
disease
HPO
×
Entrez Id:
25942
Gene Symbol:
SIN3A
SIN3A
0.100
Biomarker
disease
HPO
×
Entrez Id:
1906
Gene Symbol:
EDN1
EDN1
0.100
Biomarker
disease
HPO
×
Entrez Id:
9469
Gene Symbol:
CHST3
CHST3
0.100
Biomarker
disease
HPO
×
Entrez Id:
3339
Gene Symbol:
HSPG2
HSPG2
0.100
Biomarker
disease
HPO
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
0.100
Biomarker
disease
HPO
×
Entrez Id:
3675
Gene Symbol:
ITGA3
ITGA3
0.100
Biomarker
disease
HPO
×
Entrez Id:
4054
Gene Symbol:
LTBP3
LTBP3
0.100
Biomarker
disease
HPO
SLC25A24
0.100
Biomarker
disease
HPO
×
Entrez Id:
4841
Gene Symbol:
NONO
NONO
0.100
Biomarker
disease
HPO
×
Entrez Id:
5594
Gene Symbol:
MAPK1
MAPK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
9949
Gene Symbol:
AMMECR1
AMMECR1
0.100
Biomarker
disease
HPO
×
Entrez Id:
54928
Gene Symbol:
IMPAD1
IMPAD1
0.100
Biomarker
disease
HPO
×
Entrez Id:
5424
Gene Symbol:
POLD1
POLD1
0.100
Biomarker
disease
HPO
×
Entrez Id:
147372
Gene Symbol:
CCBE1
CCBE1
0.100
Biomarker
disease
HPO
×
Entrez Id:
3097
Gene Symbol:
HIVEP2
HIVEP2
0.100
Biomarker
disease
HPO
×
Entrez Id:
55644
Gene Symbol:
OSGEP
OSGEP
0.100
Biomarker
disease
HPO
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.100
Biomarker
disease
HPO
×
Entrez Id:
11285
Gene Symbol:
B4GALT7
B4GALT7
0.100
Biomarker
disease
HPO