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 0.456 0.793 1.00
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction
disease 0.430 1.000 0 0 2007 2013
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.430 1.000 0 0 2002 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group 0.420 1.000 0 0 1983 2011
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 moderate 1.000 0 0 2004 2004
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 0 0 2006 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
Malformations of Cortical Development, Group II
disease 0.150 1.000 0 0 2001 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 1.000 0 0 2007 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 1.000 0 0 2012 2014
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease 0.120 1.000 0 0 1983 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0018824
Disease: Heart valve disease
Heart valve disease
group 0.120 1.000 0 0 2007 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
group 0.120 1.000 0 0 2006 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease 0.110 1.000 0 0 2017 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.110 1.000 0 0 2002 2002
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.110 1.000 0 0 2006 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease 0.110 1.000 0 0 2015 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.110 1.000 0 0 2007 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1859682
Disease: Hypoplastic frontal sinuses
Hypoplastic frontal sinuses
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1865992
Disease: Short hallux
Short hallux
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1866737
Disease: Lateral femoral bowing
Lateral femoral bowing
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux
phenotype 0.100 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C1867446
Disease: Bulging forehead
Bulging forehead
phenotype 0.100 0 0