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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 19 1 1963 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 19 1 1963 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 19 3 1963 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 1 1963 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2
disease 0.410 strong 1.000 7 31 2005 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
Transitional cell carcinoma of bladder
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
Malformations of Cortical Development, Group II
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.640 None 1.000 1 4 1996 2017
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease 0.110 None 1.000 1 1 2016 2017
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
Squamous cell carcinoma of the head and neck
disease 0.110 None 1.000 1 1 2016 2017
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: 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: 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: 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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
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