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: C0006035
Disease: Borrelia Infections
Borrelia Infections 		0.010 Biomarker group BEFREE Our data demonstrate for the first time that ANO10 has a central role in innate immune defense against Borrelia infection. 25730773 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group 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: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.010 GeneticVariation group BEFREE Cerebellar ataxia associated with ANO10 mutation (ARCA3) presents a disabling cerebellar syndrome. 28316589 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group 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: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 GeneticVariation group BEFREE An ANO10 mutation is responsible for ARCA that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy. 25089919 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group 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: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 GeneticVariation group BEFREE An ANO10 mutation is responsible for ARCA that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy. 25089919 2014
CUI: C0012569
Disease: Diplopia
Diplopia 		0.100 Biomarker phenotype HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0234518
Disease: Slurred speech
Slurred speech 		0.100 Biomarker phenotype HPO
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.100 Biomarker phenotype HPO
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		0.100 Biomarker phenotype HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		0.100 Biomarker phenotype HPO
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		0.100 Biomarker phenotype HPO
CUI: C1855391
Disease: Tortuosity of conjunctival vessels
Tortuosity of conjunctival vessels 		0.100 Biomarker phenotype HPO