×
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:
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:
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:
4998
Gene Symbol:
ORC1
ORC1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
54870
Gene Symbol:
QRICH1
QRICH1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
145173
Gene Symbol:
B3GLCT
B3GLCT
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
25839
Gene Symbol:
COG4
COG4
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
5295
Gene Symbol:
PIK3R1
PIK3R1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23332
Gene Symbol:
CLASP1
CLASP1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
100151683
Gene Symbol:
RNU4ATAC
RNU4ATAC
0.100
CausalMutation
phenotype
CLINVAR
ZMPSTE24
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
23594
Gene Symbol:
ORC6
ORC6
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9321
Gene Symbol:
TRIP11
TRIP11
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
990
Gene Symbol:
CDC6
CDC6
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23332
Gene Symbol:
CLASP1
CLASP1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
6905
Gene Symbol:
TBCE
TBCE
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1968
Gene Symbol:
EIF2S3
EIF2S3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
100151683
Gene Symbol:
RNU4ATAC
RNU4ATAC
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
81620
Gene Symbol:
CDT1
CDT1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
56052
Gene Symbol:
ALG1
ALG1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
5000
Gene Symbol:
ORC4
ORC4
0.100
Biomarker
phenotype
HPO