EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Source: ALL
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: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 31 0.410 strong 1.000 8 31 2005 2018
CUI: C0751859
Disease: Lead Poisoning, Nervous System
Lead Poisoning, Nervous System 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 2 0.200 None 1.000 1 2014 2014
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		phenotype Finding 2 0.100 None 0
CUI: C4025806
Disease: High axial triradius
High axial triradius 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 39 0.400 limited 0 2
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: C4025111
Disease: Radial deviation of thumb terminal phalanx
Radial deviation of thumb terminal phalanx 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0399357
Disease: Talon cusp
Talon cusp 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 5 1 0.100 None 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype Finding 6 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype Finding 6 0.100 None 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		phenotype Finding 6 0.100 None 0
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		disease Neoplastic Process 6 0.100 None 0
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		phenotype Endocrine System Diseases Finding 7 0.100 None 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		phenotype Finding 7 1 0.100 None 0 1
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		disease Eye Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0221214
Disease: Vascular ring
Vascular ring 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 0.100 None 0
CUI: C1185616
Disease: Hair whorls
Hair whorls 		phenotype Finding 9 5 0.100 None 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group Finding 9 4 0.100 None 0
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		phenotype Finding 9 0.100 None 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		phenotype Finding 10 2 0.100 None 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 12 0.010 None 1.000 1 2005 2005
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia 		phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 1 2009 2009
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype Finding 12 2 0.100 None 0