FLNB, filamin B, 2317

N. diseases: 374; N. variants: 51
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: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 9 0.750 None 1.000 6 9 2004 2018
CUI: C0478074
Disease: Other congenital malformations of spine, not associated with scoliosis
Other congenital malformations of spine, not associated with scoliosis 		disease Congenital Abnormality 1 0.200 None 1.000 2 2007 2008
CUI: C3668942
Disease: Atelosteogenesis Type 3
Atelosteogenesis Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.710 None 1.000 2 2 2004 2006
CUI: C0265669
Disease: Congenital dislocation of knee
Congenital dislocation of knee 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality 1 1 0.110 None 1.000 1 1 2008 2008
CUI: C4022664
Disease: Fused thoracic vertebrae
Fused thoracic vertebrae 		disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1862415
Disease: Cervical segmentation defect
Cervical segmentation defect 		phenotype Finding 1 0.100 None 0
CUI: C1862420
Disease: Tombstone-shaped proximal phalanges
Tombstone-shaped proximal phalanges 		phenotype Finding 1 0.100 None 0
CUI: C1862421
Disease: Widened distal phalanges
Widened distal phalanges 		phenotype Finding 1 0.100 None 0
CUI: C1862428
Disease: Thoracic platyspondyly
Thoracic platyspondyly 		phenotype Finding 1 0.100 None 0
CUI: C2678323
Disease: C2-C3 subluxation
C2-C3 subluxation 		phenotype Finding 1 0.100 None 0
CUI: C2678399
Disease: Absent humerus
Absent humerus 		phenotype Finding 1 0.100 None 0
CUI: C4021711
Disease: Epiphyseal stippling of the humerus
Epiphyseal stippling of the humerus 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021953
Disease: Poorly ossified vertebrae
Poorly ossified vertebrae 		phenotype Finding 1 0.100 None 0
CUI: C4022506
Disease: Multinucleated giant chondrocytes in epiphyseal cartilage
Multinucleated giant chondrocytes in epiphyseal cartilage 		phenotype Finding 1 0.100 None 0
CUI: C4025049
Disease: Distal tapering femur
Distal tapering femur 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C2931648
Disease: Larsen syndrome, dominant type
Larsen syndrome, dominant type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries Disease or Syndrome 2 0.510 None 1.000 2 2004 2007
CUI: C0009701
Disease: Congenital dislocation
Congenital dislocation 		disease Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality 2 0.010 None 1.000 1 2010 2010
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: C1835573
Disease: Multiple carpal ossification centers
Multiple carpal ossification centers 		phenotype Finding 2 0.100 None 0
CUI: C1835574
Disease: Bipartite calcaneus
Bipartite calcaneus 		phenotype Finding 2 0.100 None 0
CUI: C1861328
Disease: Hypoplastic nasal septum
Hypoplastic nasal septum 		phenotype Finding 2 0.100 None 0
CUI: C1968611
Disease: Club-shaped proximal femur
Club-shaped proximal femur 		phenotype Finding 2 0.100 None 0
CUI: C3149908
Disease: Neonatal short-trunk short stature
Neonatal short-trunk short stature 		phenotype Finding 2 0.100 None 0
CUI: C4025795
Disease: Short tubular bones of the hand
Short tubular bones of the hand 		phenotype Musculoskeletal Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4310756
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
HYPERALDOSTERONISM, FAMILIAL, TYPE IV 		disease Disease or Syndrome 3 3 0.040 None 1.000 4 2017 2019