Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
0.400 Biomarker phenotype GENOMICS_ENGLAND Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia. 30503518 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
0.400 Biomarker phenotype HPO