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: 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: 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: 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
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: C0683322
Disease: Mental impairment
Mental impairment
disease 0.100 None 0 1
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
Recurrent upper respiratory tract infection
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0563243
Disease: Poor coordination
Poor coordination
phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental 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: C0549397
Disease: Deviated nasal septum
Deviated nasal septum
phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
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: C0751466
Disease: Phonophobia
Phonophobia
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias
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: 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: C0221354
Disease: Frontal bossing
Frontal bossing
disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
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: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
phenotype 0.100 None 0 0