FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
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: rs267606820
rs267606820
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: rs267606821
rs267606821
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: rs267606820
rs267606820
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: rs267606821
rs267606821
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
dbSNP: rs267606820
rs267606820
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606821
rs267606821
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C1836916
Disease:
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs12750027
rs12750027
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
CUI: C0264408
Disease:
Childhood asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065 2016
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582 2015
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
dbSNP: rs1468358104
rs1468358104
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011
dbSNP: rs899735028
rs899735028
Entrez Id: 28982;642946
Gene Symbol: FLVCR1;FLVCR1-DT
FLVCR1;FLVCR1-DT
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618 2011