FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group BEFREE Autosomal recessive posterior column ataxia and retinitis pigmentosa (PCARP) is a movement disorder that was genetically mapped to a disease locus (AXPC1) on chromosome 1q32-q31 in an inbred population of Dutch-German ancestry in the continental United States. 10830426 2000
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 9409377 1997