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: 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: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C4021264
Disease: Abnormal ventricular septum morphology
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: 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: C4476982
Disease: Two-raphe bicuspid aortic valve
Two-raphe bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4477022
Disease: Finger flexor weakness
Finger flexor weakness 		phenotype Finding 2 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
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.100 None 0 1
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy 		disease Disease or Syndrome 8 1 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		phenotype Finding 30 4 0.100 None 0
CUI: C3714542
Disease: Lymphoma, Diffuse
Lymphoma, Diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 0.010 None 1.000 1 1983 1983
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.010 None 1.000 1 1983 1983
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 15 1 1993 2019
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 1993 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 1996 2017
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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.030 None 1.000 3 1 2000 2017