Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		disease 0.810 strong 1.000 2 0 1998 2013
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		disease 0.700 None 0.923 3 0 2003 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		disease 0.700 strong 1.000 2 0 2003 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		disease 0.680 strong 1.000 4 0 2003 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		disease 0.620 strong 1.000 3 0 2003 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		disease 0.610 strong 1.000 3 0 2003 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		disease 0.610 strong 1.000 2 0 2006 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		disease 0.600 strong 1.000 1 0 2004 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		disease 0.590 strong 1.000 2 0 2003 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		disease 0.510 strong 1.000 2 0 2004 2009
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 limited 1.000 0 0 2006 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease 0.350 None 1.000 1 0 2010 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 strong 1.000 2 0 2004 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0