FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Disease: Ataxia, Sensory ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.110 GeneticVariation phenotype BEFREE Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa. 30444160 2018
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.110 Biomarker phenotype HPO