FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 19375515 2009
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR