Source: ALL

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: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1857479
Disease: Short columella
Short columella 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease 0.100 None 0 0