ACTC1, actin alpha cardiac muscle 1, 70

N. diseases: 69; N. variants: 26
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.050 None 0.800 5 2002 2018
Cardiomyopathy, Hypertrophic, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.130 None 1.000 3 3 1999 2018
Left ventricular noncompaction cardiomyopathy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 28 0.320 strong 1.000 2 1 2015 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2017 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2017 2018
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 2018 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.010 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2018 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.700 definitive 0.962 26 4 1999 2019
Cardiomyopathy, Familial Hypertrophic, 11
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 9 0.700 strong 1.000 17 9 1998 2019
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 4 0.700 strong 1.000 14 4 1998 2019
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R
disease Disease or Syndrome 1 4 0.800 strong 1.000 12 4 1998 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.190 None 1.000 9 2008 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.370 None 1.000 7 1 1998 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.650 None 1.000 6 3 2006 2019
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None 1.000 1 2019 2019