FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
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.
Abnormal morphology of left ventricular trabeculae
phenotype Anatomical Abnormality 1 1 0.100 None 0 1
Abnormal peripheral nervous system morphology
disease Anatomical Abnormality 4 2 0.100 None 0
Abnormal ventricular septum morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature
disease Anatomical Abnormality 9 2 0.100 None 0
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.010 None 1.000 1 2006 2006
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2010 2010
Arrhythmogenic Right Ventricular Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.020 None 1.000 2 2019 2020
CUI: C0004030
Disease: Aspergillosis
Aspergillosis
disease Infections Disease or Syndrome 47 2 0.010 None 1.000 1 2018 2018
Aspergillosis, Allergic Bronchopulmonary
disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2019 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.030 None 1.000 3 2006 2017
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax
phenotype Finding 12 4 0.100 None 0 1
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 1
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2009 2009
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.020 None 1.000 2 2019 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.200 None 1.000 13 1 2016 2020
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.040 None 1.000 4 2016 2019
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
disease Disease or Syndrome 1 43 0.700 strong 1.000 7 43 2011 2016
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.040 None 1.000 4 2017 2020
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
disease Cardiovascular Diseases Disease or Syndrome 21 24 0.030 None 1.000 3 4 2016 2018
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
disease Disease or Syndrome 1 2 0.100 None 0 2
Cardiomyopathy, Hypertrophic, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.110 None 1.000 1 1 2014 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2014 2016
CUI: C0393524
Disease: Cerebellar Ataxia, Late Onset
Cerebellar Ataxia, Late Onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases
group Nervous System Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2012 2012