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: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 limited 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1968611
Disease: Club-shaped proximal femur
Club-shaped proximal femur
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism
disease 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1859680
Disease: Broad face
Broad face
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1859399
Disease: Radial bowing
Radial bowing
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1856732
Disease: Aplasia/Hypoplasia of the fibula
Aplasia/Hypoplasia of the fibula
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1861328
Disease: Hypoplastic nasal septum
Hypoplastic nasal septum
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1862415
Disease: Cervical segmentation defect
Cervical segmentation defect
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1867446
Disease: Bulging forehead
Bulging forehead
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1862428
Disease: Thoracic platyspondyly
Thoracic platyspondyly
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1862425
Disease: Prominent globes
Prominent globes
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1862421
Disease: Widened distal phalanges
Widened distal phalanges
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1862420
Disease: Tombstone-shaped proximal phalanges
Tombstone-shaped proximal phalanges
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype 0.100 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.501 0.862 4.9E-10
Disproportionate short-trunk short stature
phenotype 0.100 0 0