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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		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: 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: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 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: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		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: 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: C4025806
Disease: High axial triradius
High axial triradius 		disease 0.100 None 0 0