Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		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: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
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: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		0.100 GeneticVariation 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: 5530
Gene Symbol: PPP3CA
PPP3CA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		0.100 CausalMutation phenotype CLINVAR