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: 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
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
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: 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
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
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
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: 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
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
Hereditary nonpolyposis colorectal carcinoma
disease 0.100 None 0 0
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: 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
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0011334
Disease: Dental caries
Dental caries
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0022548
Disease: Keloid
Keloid
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
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