×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
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
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GeneticVariation
disease
BEFREE
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
30444160
2018
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
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
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
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
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
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
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GermlineCausalMutation
disease
ORPHANET
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 .
21267618
2011
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GeneticVariation
disease
BEFREE
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 .
21267618
2011
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
Biomarker
disease
GENOMICS_ENGLAND
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 .
21267618
2011
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GeneticVariation
disease
UNIPROT
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 .
21267618
2011
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
Biomarker
disease
GENOMICS_ENGLAND
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
21070897
2010
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GeneticVariation
disease
UNIPROT
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
21070897
2010
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
Biomarker
disease
CTD_human
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
CausalMutation
disease
CLINVAR
×
Entrez Id:
28982
Gene Symbol:
FLVCR1
FLVCR1
0.760
GeneticVariation
disease
CLINVAR