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: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 38 0.910 definitive 1.000 20 38 1998 2018
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
disease Disease or Syndrome 1 38 0.700 strong 1.000 8 38 2005 2016
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
disease Disease or Syndrome 1 43 0.700 strong 1.000 7 43 2011 2016
CUI: C1862133
Disease: Decreased finger mobility
Decreased finger mobility
phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4476982
Disease: Two-raphe bicuspid aortic valve
Two-raphe bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 1 1 0.100 None 0 1
Abnormal morphology of left ventricular trabeculae
phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1839512
Disease: Limited knee flexion
Limited knee flexion
phenotype Finding 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
Muscle fiber cytoplasmatic inclusion bodies
phenotype Finding 2 0.100 None 0
CUI: C4477022
Disease: Finger flexor weakness
Finger flexor weakness
phenotype Finding 2 0.100 None 0
Familial restrictive cardiomyopathy (disorder)
disease Cardiovascular Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2016 2016
Abnormal peripheral nervous system morphology
disease Anatomical Abnormality 4 2 0.100 None 0
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: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy
disease Disease or Syndrome 8 1 0.100 None 0
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: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature
disease Anatomical Abnormality 9 2 0.100 None 0
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy
phenotype Finding 11 0.100 None 0
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax
phenotype Finding 12 4 0.100 None 0 1
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology
phenotype Anatomical Abnormality 12 13 0.100 None 0 1
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting
phenotype Finding 13 0.100 None 0
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness
phenotype Finding 13 3 0.100 None 0
Fatiguable weakness of proximal limb muscles
phenotype Finding 14 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness
phenotype Finding 16 1 0.100 None 0