MYLK2, myosin light chain kinase 2, 85366

N. diseases: 35; N. variants: 6
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.
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 9 163 0.600 None 1.000 2 2 2001 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.300 limited 1.000 7 2000 2017
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.300 None 0
Cardiomyopathy, Hypertrophic, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.300 None 0
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 None 0
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.200 None 1.000 1 1997 1997
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis
disease Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0 1
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C0011071
Disease: Sudden death
Sudden death
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2018 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None < 0.001 1 2006 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None < 0.001 1 2006 2006
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 2006 2006
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2017 2017
Diarrhoea predominant irritable bowel syndrome
disease Disease or Syndrome 57 8 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None < 0.001 1 2006 2006
CUI: C0432306
Disease: Ichthyosis Bullosa of Siemens
Ichthyosis Bullosa of Siemens
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 37 12 0.010 None 1.000 1 2018 2018