Source: HPO

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: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease 0.700 None 0.978 0 0 1998 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group 0.440 None 1.000 0 0 1982 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		disease 0.430 None 1.000 0 0 2007 2013
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.150 None 1.000 0 0 2000 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.140 None 1.000 0 0 2011 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.130 None 1.000 0 0 2007 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.130 None 1.000 0 0 1982 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease 0.120 None 1.000 0 0 1982 2004
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.120 None 1.000 0 0 2017 2020
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.120 None 1.000 0 0 2019 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2006 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0