Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2581
Gene Symbol: GALC
GALC
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 CausalMutation phenotype CLINVAR