Source: ORPHANET

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: 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 2 0 2003 2018
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 1 0 2003 2017
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 1 0 2007 2013
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1855733
Disease: Neuronal intestinal pseudoobstruction
Neuronal intestinal pseudoobstruction 		disease 0.300 None 1.000 1 0 2007 2007