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: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		disease 0.870 None 1.000 1 0 2004 2018
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		disease 0.800 None 1.000 1 0 2004 2017
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		disease 0.760 None 1.000 1 0 2004 2017
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		disease 0.750 None 1.000 1 0 2004 2018
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C3668942
Disease: Atelosteogenesis Type 3
Atelosteogenesis Type 3 		disease 0.710 None 1.000 1 0 2004 2006
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0