Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 84910
Gene Symbol: TMEM87B
TMEM87B
0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
0.100 Biomarker phenotype HPO
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
0.100 Biomarker phenotype HPO
Entrez Id: 613
Gene Symbol: BCR
BCR
0.100 Biomarker phenotype HPO
Entrez Id: 84992
Gene Symbol: PIGY
PIGY
0.100 Biomarker phenotype HPO
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.100 Biomarker phenotype HPO
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
0.100 Biomarker phenotype HPO
Entrez Id: 1889
Gene Symbol: ECE1
ECE1
0.100 Biomarker phenotype HPO
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
0.100 Biomarker phenotype HPO
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.100 Biomarker phenotype HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.100 Biomarker phenotype HPO
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
0.100 Biomarker phenotype HPO
Entrez Id: 9342
Gene Symbol: SNAP29
SNAP29
0.100 Biomarker phenotype HPO
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
0.100 Biomarker phenotype HPO
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.100 Biomarker phenotype HPO
Entrez Id: 9731
Gene Symbol: CEP104
CEP104
0.100 Biomarker phenotype HPO
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
0.100 Biomarker phenotype HPO
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
0.100 Biomarker phenotype HPO
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C
0.100 Biomarker phenotype HPO
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
0.100 Biomarker phenotype HPO
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
0.100 Biomarker phenotype HPO
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
0.100 Biomarker phenotype HPO
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
0.100 Biomarker phenotype HPO