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: 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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 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: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
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: 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: C0039075
Disease: Syndactyly
Syndactyly 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 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: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype 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: 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: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		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: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.110 None 1.000 0 0 2011 2011
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: 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: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype 0.100 None 0 0