FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
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.
Periventricular Heterotopia, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 38 0.810 strong 1.000 12 38 1998 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.700 None 0.978 46 25 1998 2019
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 16 0.700 strong 1.000 14 16 2003 2018
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 21 0.700 None 0.923 13 21 2003 2017
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 19 0.680 strong 1.000 12 19 2003 2018
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 4 0.620 strong 1.000 7 4 2003 2017
Terminal Osseous Dysplasia and Pigmentary Defects
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.610 strong 1.000 4 1 2003 2017
Cardiac valvular dysplasia, X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Congenital Abnormality 2 4 0.610 strong 1.000 2 3 2006 2007
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.600 strong 1.000 2 1 2004 2007
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 3 0.590 strong 1.000 12 3 2003 2018
Congenital idiopathic intestinal pseudoobstruction
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 3 0.510 strong 1.000 3 3 2004 2009
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 limited 1.000 7 2006 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.440 None 1.000 5 1982 2018
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction
disease Digestive System Diseases Disease or Syndrome 32 5 0.430 None 1.000 3 2007 2013
Bilateral Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.400 None 1.000 13 1 1998 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.380 None 1.000 9 1990 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.370 None 1.000 8 1990 2018
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.350 None 1.000 5 1 2010 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.340 None 1.000 4 2002 2019
CUI: C0220769
Disease: FG syndrome
FG syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 19 12 0.310 None 1.000 1 1 2007 2007
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.300 strong 1.000 2 2004 2017
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
disease Neoplasms Neoplastic Process 100 1 0.300 None 1.000 1 2015 2015
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.300 None 1.000 1 2003 2003
CUI: C0600066
Disease: Malignant Cystosarcoma Phyllodes
Malignant Cystosarcoma Phyllodes
disease Neoplasms Neoplastic Process 16 0.300 None 1.000 1 2015 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2015 2015