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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4024989
Disease: Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4025111
Disease: Radial deviation of thumb terminal phalanx
Radial deviation of thumb terminal phalanx 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4025806
Disease: High axial triradius
High axial triradius 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C1855728
Disease: Low posterior hairline
Low posterior 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: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype 0.100 None 0 0