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: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
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: C1185616
Disease: Hair whorls
Hair whorls
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum
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: 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: 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: 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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype 0.100 None 0 0
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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype 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
Premature development of the breasts
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype 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