FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606819
rs267606819
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.800 GeneticVariation UNIPROT Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
dbSNP: rs267606819
rs267606819
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		0.800 GeneticVariation UNIPROT Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897 2010
dbSNP: rs267606819
rs267606819
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		A 0.800 CausalMutation CLINVAR