ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		0.100 Biomarker phenotype HPO
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 Biomarker disease BEFREE To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. 21820307 2012
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
Atrophy of quadriceps femoris muscle 		0.100 Biomarker phenotype HPO
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.010 Biomarker disease BEFREE The conditions studied were scans of genetically confirmed cases of Becker muscular dystrophy (BMD) (n = 28), LGMD2C-F (sarcoglycanopathies) (n = 11), LGMD2I (n = 4), LGMD1B (n = 26), LGMD2A (n = 24), Bethlem myopathy (n = 14), and LGMD2L (n = 11). 23035061 2012
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.020 Biomarker disease BEFREE Muscle MRI therefore does not appear to be as useful in the diagnostic work up of LGMD2L as for other neuromuscular diseases, such as Bethlem myopathy or myofibrillar myopathy. 22980763 2012
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.020 Biomarker disease BEFREE The conditions studied were scans of genetically confirmed cases of Becker muscular dystrophy (BMD) (n = 28), LGMD2C-F (sarcoglycanopathies) (n = 11), LGMD2I (n = 4), LGMD1B (n = 26), LGMD2A (n = 24), Bethlem myopathy (n = 14), and LGMD2L (n = 11). 23035061 2012
CUI: C0696098
Disease: Blood thyroid stimulating hormone analysis
Blood thyroid stimulating hormone analysis 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. 24722205 2014
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 GeneticVariation group BEFREE Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). 29124309 2018
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		0.100 Biomarker phenotype HPO
CUI: C3281059
Disease: Broad jaw
Broad jaw 		0.100 Biomarker phenotype HPO
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		0.100 Biomarker phenotype HPO
CUI: C0586738
Disease: Calf muscle weakness
Calf muscle weakness 		0.010 Biomarker phenotype BEFREE Ninety percent of the former had to make use of a wheelchair within 15 years after onset of the disease, whereas patients with MMD3, who have a significantly later onset (mean 35 years) of asymmetrical calf muscle weakness and atrophy, remained ambulant during the first 15 years of their disease. 23530687 2013
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		0.100 GeneticVariation phenotype GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 AlteredExpression group BEFREE Cardiomyopathy has not previously been reported in these populations despite a proven expression of anoctamin 5 in the cardiac muscle. 23041008 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 GeneticVariation group BEFREE Dilated cardiomyopathy in patients with mutations in anoctamin 5. 23041008 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASDB Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 18179892 2008
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 GeneticVariation group BEFREE Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N). 19019316 2008
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		0.100 Biomarker disease HPO
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.010 GeneticVariation disease BEFREE Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N). 19019316 2008
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		0.100 Biomarker disease HPO
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		0.100 CausalMutation disease CLINVAR
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation phenotype CLINVAR