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: 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: 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: 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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease 0.110 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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 1 0 2017 2017
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: 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: C0278510
Disease: Childhood Medulloblastoma
Childhood 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: 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: 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: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (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: 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: 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: 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: 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 2 2 2017 2017
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: 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: 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: 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: 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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.010 None 1.000 1 0 2019 2019