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.
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy 		disease Disease or Syndrome 8 1 0.100 None 0
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		disease Anatomical Abnormality 9 2 0.100 None 0
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		phenotype Anatomical Abnormality 12 13 0.100 None 0 1
CUI: C4022157
Disease: Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber cytoplasmatic inclusion bodies 		phenotype Finding 2 0.100 None 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		phenotype Finding 14 0.100 None 0
CUI: C4025831
Disease: Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology 		disease Anatomical Abnormality 4 2 0.100 None 0
CUI: C4310748
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4477022
Disease: Finger flexor weakness
Finger flexor weakness 		phenotype Finding 2 0.100 None 0
CUI: C4531288
Disease: Abnormal morphology of left ventricular trabeculae
Abnormal morphology of left ventricular trabeculae 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.200 None 1.000 13 1 2016 2020
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.050 None 1.000 5 2016 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.040 None 1.000 4 2016 2019
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
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 41 30 0.130 None 1.000 3 5 2016 2018
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 21 24 0.030 None 1.000 3 4 2016 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2014 2016
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.020 None 1.000 2 2016 2018
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
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.010 None 1.000 1 2019 2019
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 83 47 0.010 None 1.000 1 2018 2018
CUI: C0340429
Disease: Familial restrictive cardiomyopathy (disorder)
Familial restrictive cardiomyopathy (disorder) 		disease Cardiovascular Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2016 2016
CUI: C0348616
Disease: Other restrictive cardiomyopathy
Other restrictive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2016 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 1