×
Entrez Id:
9343
Gene Symbol:
EFTUD2
EFTUD2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
8621
Gene Symbol:
CDK13
CDK13
0.100
GeneticVariation
phenotype
CLINVAR
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
28807008
2017
×
Entrez Id:
8506
Gene Symbol:
CNTNAP1
CNTNAP1
0.100
GeneticVariation
phenotype
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699
2017
×
Entrez Id:
3020
Gene Symbol:
H3-3A
H3-3A
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
823
Gene Symbol:
CAPN1
CAPN1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
4604
Gene Symbol:
MYBPC1
MYBPC1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
6440
Gene Symbol:
SFTPC
SFTPC
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
9091
Gene Symbol:
PIGQ
PIGQ
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
7080
Gene Symbol:
NKX2-1
NKX2-1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6628
Gene Symbol:
SNRPB
SNRPB
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55906
Gene Symbol:
ZC4H2
ZC4H2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8292
Gene Symbol:
COLQ
COLQ
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8818
Gene Symbol:
DPM2
DPM2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5339
Gene Symbol:
PLEC
PLEC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3913
Gene Symbol:
LAMB2
LAMB2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4534
Gene Symbol:
MTM1
MTM1
0.100
Biomarker
phenotype
HPO