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.
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification 		disease Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C4021244
Disease: Abnormal hand bone ossification
Abnormal hand bone ossification 		phenotype Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.110 None 1.000 1 2006 2006
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4024733
Disease: Abnormality of the fifth metatarsal bone
Abnormality of the fifth metatarsal bone 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C4021738
Disease: Abnormality of the pubic bone
Abnormality of the pubic bone 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1862136
Disease: Abnormality of the tarsal bones
Abnormality of the tarsal bones 		phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C0000833
Disease: Abscess
Abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1 0.010 None 1.000 1 2018 2018
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype Finding 9 1 0.100 None 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		phenotype Finding 6 0.100 None 0
CUI: C0265609
Disease: Accessory carpal bones
Accessory carpal bones 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.100 None 0