Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.870 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055

2004
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.870 Biomarker GENOMICS_ENGLAND

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.800 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055

2004
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		0.760 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055

2004
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		0.760 Biomarker GENOMICS_ENGLAND

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		0.750 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055

2004
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		0.750 Biomarker GENOMICS_ENGLAND

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C3668942
Disease: Atelosteogenesis Type 3
Atelosteogenesis Type 3 		0.710 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055

2004
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C3668942
Disease: Atelosteogenesis Type 3
Atelosteogenesis Type 3 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker GENOMICS_ENGLAND