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: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		disease 0.710 moderate 1.000 3 14 2017 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.300 None 1.000 1 0 2018 2018
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.150 None 1.000 5 0 2017 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: C0033377
Disease: Ptosis
Ptosis 		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: 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: 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: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 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: 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: 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: 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: 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: 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: 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: 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