FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). 29192808 2018
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. 30444160 2018
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925 2017
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE We show for the first time that nontransmembrane domain (TMD) mutations in the FLVCR1 can cause PCARP, suggesting different mechanisms for pathogenicity. 24628582 2015
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE Mutations of SLC49A1 encoding FLVCR1 are noted in patients with a rare neurodegenerative disorder: posterior column ataxia with retinitis pigmentosa. 23506900 2013
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GermlineCausalMutation disease ORPHANET Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease BEFREE Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 Biomarker disease GENOMICS_ENGLAND Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease UNIPROT Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease UNIPROT Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 Biomarker disease CTD_human
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 CausalMutation disease CLINVAR
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.760 GeneticVariation disease CLINVAR