Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Birth length less than 3rd percentile
0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010

Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010

Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 25839
Gene Symbol: COG4
COG4
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
Birth length less than 3rd percentile
0.100 CausalMutation CLINVAR

Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
Birth length less than 3rd percentile
0.100 GeneticVariation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
Birth length less than 3rd percentile
0.100 GeneticVariation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
Birth length less than 3rd percentile
0.100 GeneticVariation CLINVAR