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: C0240953
Disease: Winged scapula
Winged scapula 		0.100 Biomarker phenotype HPO
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		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: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		0.100 Biomarker disease HPO
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Collectively downregulation of ANO5 promotes thyroid cancer cell migration and invasion by affecting JAK/STAT3 pathway. 28902351 2017
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. 24722205 2014
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. 24722205 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 AlteredExpression disease BEFREE Collectively downregulation of ANO5 promotes thyroid cancer cell migration and invasion by affecting JAK/STAT3 pathway. 28902351 2017
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 AlteredExpression disease BEFREE Collectively downregulation of ANO5 promotes thyroid cancer cell migration and invasion by affecting JAK/STAT3 pathway. 28902351 2017
CUI: C2931367
Disease: Thyroid cancer, follicular
Thyroid cancer, follicular 		0.010 AlteredExpression disease BEFREE Moreover, western blot assay also showed that ANO5 was downregulated in papillary thyroid cancer and follicular thyroid cancer compared to adjacent noncancerous tissues. 28902351 2017
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		0.010 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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.010 GeneticVariation 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: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 Biomarker phenotype HPO
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		0.100 Biomarker phenotype HPO
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.100 CausalMutation group CLINVAR
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		0.010 Biomarker disease BEFREE Amyloid subtyping using laser capture microdissection and mass spectrometry-based proteomic analysis did not identify ANO5 or any fragment of ANO5 in the amyloid deposits, but detected other known amyloidogenic proteins. 23663589 2013
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0240679
Disease: Pelvic girdle muscle atrophy
Pelvic girdle muscle atrophy 		0.100 Biomarker disease HPO