FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.100 CausalMutation phenotype CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO