ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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: C4076349
Disease: Chronic alcoholic liver disease
Chronic alcoholic liver disease 		disease Disease or Syndrome 4 0.010 None 1.000 1 1995 1995
CUI: C1858695
Disease: Chudley-Mccullough syndrome
Chudley-Mccullough syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 6 0.020 None 1.000 2 2017 2018
CUI: C0877854
Disease: Cerebral Arteriosclerosis
Cerebral Arteriosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C1300346
Disease: Desmoplastic fibroblastoma
Desmoplastic fibroblastoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C2919166
Disease: Autosomal dominant focal segmental glomerulosclerosis
Autosomal dominant focal segmental glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2003 2003
CUI: C4303164
Disease: Autoimmune hepatitis type 1
Autoimmune hepatitis type 1 		disease Disease or Syndrome 5 0.010 None 1.000 1 2003 2003
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2005 2005
CUI: C0339578
Disease: Corticosteroid-induced glaucoma
Corticosteroid-induced glaucoma 		disease Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
CUI: C1302808
Disease: Myopericytoma
Myopericytoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 3 0.010 None < 0.001 1 2018 2018
CUI: C2712360
Disease: Severe hypoxic ischemic encephalopathy
Severe hypoxic ischemic encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2003 2003
CUI: C3274639
Disease: Neonatal Opiate Withdrawal Syndrome
Neonatal Opiate Withdrawal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2019 2019
CUI: C4085370
Disease: Fibromatosis, Palmar
Fibromatosis, Palmar 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 1995 1995
CUI: C4021370
Disease: Duplication of thumb phalanx
Duplication of thumb phalanx 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4022153
Disease: Cerebral cortical hemiatrophy
Cerebral cortical hemiatrophy 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0023240
Disease: Legionellosis
Legionellosis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0205766
Disease: Myxofibroma
Myxofibroma 		disease Neoplasms Neoplastic Process 7 0.010 None < 0.001 1 2018 2018
CUI: C0238031
Disease: Breast Phyllodes Tumor
Breast Phyllodes Tumor 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 0.010 None 1.000 1 2000 2000
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 1999 1999
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 15 0.010 None 1.000 1 2007 2007
CUI: C4290000
Disease: acute flaccid myelitis
acute flaccid myelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0041471
Disease: TYPHUS
TYPHUS 		disease Infections Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0334474
Disease: Spindle cell lipoma
Spindle cell lipoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0343758
Disease: Typhus group rickettsial disease
Typhus group rickettsial disease 		disease Infections Disease or Syndrome 8 0.010 None 1.000 1 2015 2015