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: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group Finding 9 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: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		disease Anatomical Abnormality 28 0.100 None 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype Finding 12 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 216 0.100 None 0
CUI: C0001818
Disease: Agoraphobia
Agoraphobia 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 250 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 244 0.110 None 1.000 0 2017 2017
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: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype Finding 6 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 574 0.100 None 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 496 0.100 None 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 73 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 157 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 561 0.100 None 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		disease Eye Diseases Disease or Syndrome 6 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 216 0.640 None 1.000 1 4 1996 2017
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: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 413 0.100 None 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 64 0.100 None 0