ANO10, anoctamin 10, 55129

N. diseases: 62; N. variants: 17
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
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.310 GeneticVariation disease BEFREE The excitement about Tmem16 proteins has been enhanced by the finding that Ano1 has been linked to cancer, mutations in Ano5 are linked to several forms of muscular dystrophy (LGMDL2 and MMD-3), mutations in Ano10 are linked to autosomal recessive spinocerebellar ataxia, and mutations in Ano6 are linked to Scott syndrome, a rare bleeding disorder. 21642943 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.310 Biomarker disease CTD_human
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.300 Biomarker disease CTD_human
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.300 Biomarker disease CTD_human
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 Biomarker disease CTD_human
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.300 Biomarker disease CTD_human
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.300 Biomarker disease CTD_human
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 GeneticVariation disease BEFREE The objective of this study was to describe the phenotype of 2 siblings with compound heterozygous ANO10 mutations and progressive cerebellar ataxia, epilepsy, and cognitive impairment. 27045840 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 GeneticVariation disease BEFREE An ANO10 mutation is responsible for ARCA that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy. 25089919 2014
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 GeneticVariation disease GWASCAT Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. 31527586 2019
CUI: C2213246
Disease: Non-Hodgkin's lymphoma of central nervous system
Non-Hodgkin's lymphoma of central nervous system 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC network study. 31102405 2019