×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
phenotype
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
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:
816
Gene Symbol:
CAMK2B
CAMK2B
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
10939
Gene Symbol:
AFG3L2
AFG3L2
0.100
CausalMutation
phenotype
CLINVAR
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
20725928
2010
×
Entrez Id:
84617
Gene Symbol:
TUBB6
TUBB6
0.100
CausalMutation
phenotype
CLINVAR
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
20725928
2010
×
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:
9343
Gene Symbol:
EFTUD2
EFTUD2
0.100
GeneticVariation
phenotype
CLINVAR
×
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
×
Entrez Id:
4576
Gene Symbol:
TRNT
TRNT
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
5325
Gene Symbol:
PLAGL1
PLAGL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
89910
Gene Symbol:
UBE3B
UBE3B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.100
CausalMutation
phenotype
CLINVAR
ALDH18A1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
93627
Gene Symbol:
TBCK
TBCK
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.100
GeneticVariation
phenotype
CLINVAR