Source: INFERRED

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: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		disease 0.400 limited 0 2
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0023418
Disease: leukemia
leukemia 		disease 0.140 None 1.000 0 0 2000 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1305740
Disease: Overbite
Overbite 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1842680
Disease: Small earlobe
Small earlobe 		phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1185616
Disease: Hair whorls
Hair whorls 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.100 None 0 0