Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker phenotype GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker phenotype HPO
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: 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: 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: 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: 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
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		0.100 Biomarker phenotype HPO
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		0.100 Biomarker phenotype HPO
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.100 Biomarker phenotype HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 Biomarker phenotype HPO
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 Biomarker phenotype HPO
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 Biomarker phenotype HPO
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753 		0.100 Biomarker phenotype HPO
Entrez Id: 23483
Gene Symbol: TGDS
TGDS 		0.100 Biomarker phenotype HPO
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9 		0.100 Biomarker phenotype HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 Biomarker phenotype HPO