ANO10, anoctamin 10, 55129

N. diseases: 62; N. variants: 17
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease BEFREE Although TMEM16K is widely distributed and associated with the neurological disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR10), its location in cells, function and structure are largely uncharacterised. 31477691 2019
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 GeneticVariation disease BEFREE Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutation in the anoctamin 10 gene is infrequent and little is known about its cognitive profile. 31423897 2019
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease GENOMICS_ENGLAND The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation. 25182700 2014
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease BEFREE The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation. 25182700 2014
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 GermlineCausalMutation disease ORPHANET Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. 21092923 2010
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease GENOMICS_ENGLAND Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. 21092923 2010
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 GeneticVariation disease UNIPROT Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. 21092923 2010
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 GeneticVariation disease CLINVAR
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 CausalMutation disease CLINVAR
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.730 Biomarker disease GENOMICS_ENGLAND