FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564229228
rs1564229228
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		C 0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016