CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Chromosome 16p13.3 Deletion Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow
phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 39 0.700 definitive 1.000 12 37 1997 2016
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
disease Neoplastic Process 2 0.300 None 1.000 2 2008 2013
Plantar crease between first and second toes
phenotype Finding 2 0.100 None 0
CUI: C4025806
Disease: High axial triradius
High axial triradius
disease Anatomical Abnormality 2 0.100 None 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 3 0.100 None 0
Radial deviation of thumb terminal phalanx
disease Anatomical Abnormality 3 0.100 None 0
CUI: C0399357
Disease: Talon cusp
Talon cusp
disease Anatomical Abnormality 5 0.100 None 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum
phenotype Finding 5 1 0.100 None 0
CUI: C0558920
Disease: Lump on thigh
Lump on thigh
phenotype Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 6 0.010 None 1.000 1 2016 2016
CUI: C0866588
Disease: lupus erythematodes
lupus erythematodes
disease Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C0948976
Disease: Leukemic infiltration of skin
Leukemic infiltration of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 2017 2017
CUI: C2861614
Disease: AML M5b
AML M5b
disease Neoplastic Process 6 0.010 None 1.000 1 2003 2003
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum
phenotype Finding 6 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
phenotype Finding 6 0.100 None 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux
phenotype Finding 6 0.100 None 0
Papillary cystadenoma of the epididymis
disease Neoplastic Process 6 0.100 None 0
Premature development of the breasts
phenotype Endocrine System Diseases Finding 7 0.100 None 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy
disease Eye Diseases Disease or Syndrome 7 0.100 None 0
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2
disease Disease or Syndrome 8 13 0.010 None 1.000 1 2011 2011
CUI: C0221214
Disease: Vascular ring
Vascular ring
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 0.100 None 0
CUI: C0575897
Disease: Thumb deformity
Thumb deformity
phenotype Musculoskeletal Diseases Finding 8 7 0.100 None 0 2
CUI: C1185616
Disease: Hair whorls
Hair whorls
phenotype Finding 9 5 0.100 None 0