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: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
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
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
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
CUI: C1845235
Disease: Heterotopia, Periventricular, Ehlers-Danlos Variant
Heterotopia, Periventricular, Ehlers-Danlos Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.300 None 1.000 1 2005 2005
CUI: C2239253
Disease: Sinus of Valsalva aneurysm
Sinus of Valsalva aneurysm 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C2748918
Disease: Otopalatodigital Spectrum Disorder
Otopalatodigital Spectrum Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.010 None 1.000 1 2 2005 2005
CUI: C3160906
Disease: Subependymal nodular heterotopia
Subependymal nodular heterotopia 		disease Disease or Syndrome; Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
CUI: C1844516
Disease: Increased density of long bone diaphyses
Increased density of long bone diaphyses 		phenotype Finding 1 0.100 None 0
CUI: C1844519
Disease: Partial fusion of carpals
Partial fusion of carpals 		phenotype Finding 1 0.100 None 0
CUI: C1844520
Disease: Partial fusion of tarsals
Partial fusion of tarsals 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C1844702
Disease: Vertical clivus
Vertical clivus 		phenotype Finding 1 0.100 None 0
CUI: C1844712
Disease: Nonossified fifth metatarsal
Nonossified fifth metatarsal 		phenotype Finding 1 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: C1866737
Disease: Lateral femoral bowing
Lateral femoral bowing 		phenotype Finding 1 0.100 None 0
CUI: C4021189
Disease: Underdeveloped superior crus of antihelix
Underdeveloped superior crus of antihelix 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021253
Disease: Undulate clavicles
Undulate clavicles 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4023288
Disease: Short chordae tendineae of the mitral valve
Short chordae tendineae of the mitral valve 		disease Anatomical Abnormality 1 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: C4025001
Disease: Short chordae tendineae of the tricuspid valve
Short chordae tendineae of the tricuspid valve 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025087
Disease: Long phalanx of finger
Long phalanx of finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4038738
Disease: Steep mandibular plane angle
Steep mandibular plane angle 		phenotype Finding 1 0.100 None 0
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: 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
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
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: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 4 0.300 None 1.000 1 4 2017 2017
CUI: C0431378
Disease: Nodular heterotopia
Nodular heterotopia 		disease Nervous System Diseases Congenital Abnormality 2 0.010 None 1.000 1 2012 2012