Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation 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: 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: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR
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