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: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.100 None 0
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 0.100 None 0
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 36 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 413 0.100 None 0
CUI: C0751466
Disease: Phonophobia
Phonophobia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 16 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 266 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 0.100 None 0
CUI: C1185616
Disease: Hair whorls
Hair whorls 		phenotype Finding 9 0.100 None 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype Finding 11 0.100 None 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 10 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: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 40 0.100 None 0
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: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype Finding 16 0.100 None 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 5 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 16 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 210 0.100 None 0
CUI: C0399357
Disease: Talon cusp
Talon cusp 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 0.100 None 0