Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		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: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation phenotype CLINVAR
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: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker phenotype HPO
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		0.100 Biomarker phenotype HPO
Entrez Id: 284098
Gene Symbol: PIGW
PIGW 		0.100 Biomarker phenotype HPO
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 Biomarker phenotype HPO
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 Biomarker phenotype HPO
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1 		0.100 Biomarker phenotype HPO
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		0.100 Biomarker phenotype HPO
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		0.100 Biomarker phenotype HPO
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2 		0.100 Biomarker phenotype HPO
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 Biomarker phenotype HPO