EP300, E1A binding protein p300, 2033

N. diseases: 160; N. variants: 43
Source: INFERRED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 1.000 19 1 1963 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 0.100 None 1.000 19 1 1963 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 196 0.100 None 1.000 19 1 1963 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 954 0.100 None 1.000 19 3 1963 2016
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 92 0.100 None 1.000 1 1 2018 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 26 0.100 None 1.000 1 1 2016 2016
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 39 0.100 None 1.000 1 1 2016 2016
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 0.100 None 1.000 1 1 2016 2016
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 16 0.100 None 1.000 1 1 2016 2016
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 58 0.100 None 1.000 1 1 2018 2018
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 324 0.100 None 0 1
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype Finding 16 0.100 None 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.100 None 0 1
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 40 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 116 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 0.100 None 0 1
CUI: C1842680
Disease: Small earlobe
Small earlobe 		phenotype Finding 17 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 0 1
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype Finding 6 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 551 0.100 None 0
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 10 0.100 None 0