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: 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: 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: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		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: C0239479
Disease: Round face
Round 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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		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: C0221369
Disease: Acquired Camptodactyly
Acquired 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: C0038379
Disease: Strabismus
Strabismus 		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: 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: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group 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: 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: 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: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0376175
Disease: Bell Palsy
Bell Palsy 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.010 None 1.000 1 0 2019 2019