Source: HPO

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: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0022548
Disease: Keloid
Keloid 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 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: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0221214
Disease: Vascular ring
Vascular ring 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0399357
Disease: Talon cusp
Talon cusp 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0751466
Disease: Phonophobia
Phonophobia 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.120 None 1.000 0 0 2015 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0