Source: HPO

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 0.489 0.828 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0 2005 2010
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group 0.110 1.000 0 0 2014 2014
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
Globe retraction and deviation on adduction
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1850628
Disease: Prominent columella
Prominent columella
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy
disease 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1855670
Disease: Abnormality of the cornea
Abnormality of the cornea
group 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype 0.100 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.489 0.828 1.00
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
phenotype 0.100 0 0