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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
|
21070897 |
2010 |
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
|
21070897 |
2010 |
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
|
21070897 |
2010 |
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Retinitis Pigmentosa
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FLVCR1 can present with the clinical picture of a non-syndromic autosomal recessive RP (in this case RP without PCA), RP with mild cerebellar signs, but also PCARP.
|
30656474 |
2019 |
Retinitis Pigmentosa
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration.
|
29192808 |
2018 |
Retinitis Pigmentosa
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa.
|
30444160 |
2018 |
Retinitis Pigmentosa
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
|
22483575 |
2012 |
Retinitis Pigmentosa
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
|
21070897 |
2010 |
Retinitis Pigmentosa
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Liver carcinoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
The results showed that the level of α-fetoprotein was significantly reduced in PCA-ZnAl (350±43.90 ng/mL), doxorubicin (DOX) (290±20.52 ng/mL) and ZnAl-LDH (390±19.65 ng/mL) treated animals compared to HCC mice treated with normal saline (580.4± 52.04 ng/mL).
|
31141523 |
2019 |
Liver carcinoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
The liver metabolism genes TFRC and FLVCR1 were related to survival, disease status, and prognosis in patients with hepatocellular carcinoma.
|
30076742 |
2018 |
Liver carcinoma
|
0.320 |
Biomarker
|
disease |
CTD_human |
Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling.
|
28284560 |
2017 |