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: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
group 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: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease 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: 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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease 0.120 None 1.000 0 0 2010 2013
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0001818
Disease: Agoraphobia
Agoraphobia
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial 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: 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
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: 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: C0005745
Disease: Blepharoptosis
Blepharoptosis
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: 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: 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: 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: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0086543
Disease: Cataract
Cataract
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy
disease 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: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney
group 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
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: 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
Congenital ocular coloboma (disorder)
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