ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 9 28 0.800 None 1.000 34 28 2004 2019
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 49 0.920 None 1.000 24 49 2010 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.400 None 0.944 18 2 2010 2019
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 47 0.100 None 1.000 7 1 2010 2015
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 8 0.740 None 1.000 7 8 2010 2019
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.030 None 1.000 3 2010 2016
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 25 0.030 None 1.000 3 2010 2016
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.020 None 0.500 2 2012 2012
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 146 0.020 None 1.000 2 2013 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2012 2012
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2017 2017
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.010 None 1.000 1 2017 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2017 2017
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2017 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2017 2017
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 43 0.010 None 1.000 1 2008 2008
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.010 None 1.000 1 2008 2008
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 19 74 0.010 None 1.000 1 2008 2008
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2017 2017
CUI: C0555197
Disease: Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia 		disease Infections; Musculoskeletal Diseases Neoplastic Process 1 1 0.010 None 1.000 1 2019 2019
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.010 None 1.000 1 2008 2008
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2011 2011
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.010 None 1.000 1 2012 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2019 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.010 None < 0.001 1 2012 2012