ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None < 0.001 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.100 None 1.000 12 1999 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.120 None 1.000 2 2015 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 9 2 2001 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 1 2001 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.110 None 1.000 7 1 2003 2015
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		disease Disease or Syndrome 1 2 0.700 limited 1.000 1 2 2015 2015
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 2015 2015
CUI: C2931268
Disease: Scapuloperoneal myopathy
Scapuloperoneal myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2015 2015
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 0.300 None 1.000 1 2015 2015
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2015 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2015 2015
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2015 2015
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.530 1.000 5 2001 2013
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4 0.020 None 1.000 2 2010 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.400 strong 1.000 2 2006 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2013 2013
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2013 2013
CUI: C1834339
Disease: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.600 strong 1.000 2 1 2009 2011
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2009 2011