Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 10522
Gene Symbol: DEAF1
DEAF1
0.100 GeneticVariation phenotype CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
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: 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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 CausalMutation phenotype CLINVAR