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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2011 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2011 2011
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: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.200 None 1.000 28 2 2005 2019
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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.200 None 1.000 13 1 2016 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: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.130 None 1.000 3 2012 2018
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: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 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: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 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
Abnormal ventricular septum morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy
phenotype Finding 11 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness
phenotype Finding 16 1 0.100 None 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
phenotype Pathological Conditions, Signs and Symptoms Finding 51 7 0.100 None 0
Proximal muscle weakness in lower limbs
phenotype Finding 30 4 0.100 None 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 70 4 0.100 None 0