1. Gene
  2. CREBBP - CREB binding protein Gene

CREBBP - CREB binding protein Gene

Homo sapiens

Also known as CBP; RSTS; KAT3A; MKHK1; RSTS1

Gene ID: 1387 | Gene type: protein coding

About CREBBP

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,725,054-3,880,713 (from NCBI)

This gene has 20 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 181 phenotypes. Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 12.2) and 25 other tissues.

Summary

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic Histone Acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and Histone Acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]

CREBBP Products(10)

mRNA Protein Name
NM_001079846.1 NP_001073315.1 CREB-binding protein isoform b
XM_017022944.2 XP_016878433.1 CREB-binding protein isoform X1
XM_011522381.3 XP_011520683.1 CREB-binding protein isoform X7
XM_006720848.4 XP_006720911.1 CREB-binding protein isoform X5
XM_011522382.4 XP_011520684.1 CREB-binding protein isoform X8
XM_005255125.5 XP_005255182.1 CREB-binding protein isoform X6
XM_047433624.1 XP_047289580.1 CREB-binding protein isoform X3
XM_005255124.5 XP_005255181.1 CREB-binding protein isoform X2
NM_004380.3 NP_004371.2 CREB-binding protein isoform a
XM_047433625.1 XP_047289581.1 CREB-binding protein isoform X4
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
15509593 GOA
enables MRF binding IDA
IDA: Inferred from direct assay
8621548 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
16043483 GOA
enables acetyltransferase activity EXP
EXP: Inferred from Experiment
12456660 GOA
enables acetyltransferase activity IDA
IDA: Inferred from direct assay
11742995 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
24939902 GOA
enables damaged DNA binding IDA
IDA: Inferred from direct assay
24939902 GOA
enables histone H3K18 acetyltransferase activity IDA
IDA: Inferred from direct assay
21131905 GOA
enables histone H3K27 acetyltransferase activity IDA
IDA: Inferred from direct assay
21131905 GOA
enables histone acetyltransferase activity IDA
IDA: Inferred from direct assay
11742995 GOA
enables p53 binding IPI
IPI: Inferred from physical interaction
9194565 GOA
enables peptide lactyltransferase (CoA-dependent) activity IDA
IDA: Inferred from direct assay
38128537 GOA
enables peptide-lysine-N-acetyltransferase activity EXP
EXP: Inferred from Experiment
34239064 GOA
enables peptide-lysine-N-acetyltransferase activity IDA
IDA: Inferred from direct assay
24207024 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8684459 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
12169688 GOA
enables transcription coactivator activity IPI
IPI: Inferred from physical interaction
8684459 GOA
enables transcription coactivator binding IPI
IPI: Inferred from physical interaction
11349124 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
21539536 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromatin IDA
IDA: Inferred from direct assay
21539536 GOA
is active in cytoplasm IDA
IDA: Inferred from direct assay
35675826 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
12929931 GOA
located in nuclear body IDA
IDA: Inferred from direct assay
15488321 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12929931 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CREBBP Protein Structure

zf-TAZ

zf-TAZ: TAZ zinc finger (353 - 432)

KIX

KIX: KIX domain (588 - 667)

Bromodomain

Bromodomain: Bromodomain (1104 - 1178)

DUF902

DUF902: Domain of Unknown Function (DUF902) (1191 - 1232)

HAT_KAT11

HAT_KAT11: Histone acetylation protein (1344 - 1639)

ZZ

ZZ: Zinc finger, ZZ type (1702 - 1742)

zf-TAZ

zf-TAZ: TAZ zinc finger (1771 - 1843)

Creb_binding

Creb_binding: Creb binding (2016 - 2115)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2442 a.a.
Protein Preferred Names Protein Names

CREB-binding protein

histone lysine acetyltransferase CREBBP

protein-lysine acetyltransferase CREBBP

CREBBP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra CREBBP Q92793 MTDH Homo sapiens Q86UE4
Anti Bait CoIP
18316612
Intra CREBBP Q92793 COPS2 Homo sapiens P61201
Anti Bait CoIP
23441852
Intra CREBBP Q92793 FOXO1 Homo sapiens Q12778
Anti Bait CoIP
15220471
Intra CREBBP Q92793 FOXO3 Homo sapiens O43524
Anti Bait CoIP
15126506
Intra CREBBP Q92793 IRF3 Homo sapiens Q14653
Anti Bait CoIP
20581830
Intra CREBBP Q92793 IRF3 Homo sapiens Q14653
Anti Bait CoIP
18309294
Intra CREBBP Q92793 AKT1 Homo sapiens P31749
Anti Tag CoIP
23434580
Intra CREBBP Q92793 H4C16 Homo sapiens P62805
NMR
24361270
Intra CREBBP Q92793 H4C16 Homo sapiens P62805
X-Ray Diffraction
24361270
Intra CREBBP Q92793 H4C16 Homo sapiens P62805
Fluorescence Spectr
24361270
Intra CREBBP Q92793 NAP1L1 Homo sapiens P55209
Anti Bait CoIP
11940655
Intra CREBBP Q92793 NAP1L1 Homo sapiens P55209
Y2H
11940655
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Pull Down
10823891
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Anti Bait CoIP
19805293
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Pull Down
10196247
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Anti Tag CoIP
19234109
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Anti Tag CoIP
14759370
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Pull Down
9194564
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Anti Bait CoIP
9194564
Intra CREBBP Q92793 TP53 Homo sapiens P04637
Competition Binding
10196247
Intra CREBBP Q92793 TBX21 Homo sapiens Q9UL17
Anti Bait CoIP
17075044
Intra CREBBP Q92793 HIF1A Homo sapiens Q16665
Fluorescence
17382325
Intra CREBBP Q92793 SREBF2 Homo sapiens Q12772
Pull Down
16799563
Intra CREBBP Q92793 KAT2B Homo sapiens Q92831
Anti Bait CoIP
8684459
Intra CREBBP Q92793 AR Homo sapiens P10275
Pull Down
20541699
Intra CREBBP Q92793 CREB1 Homo sapiens P16220
Pull Down
16799563
Intra CREBBP Q92793 RELA Homo sapiens Q04206
Anti Bait CoIP
17362989
Intra CREBBP Q92793 NCOA6 Homo sapiens Q14686
GMS
12482968
Intra CREBBP Q92793 NCOA6 Homo sapiens Q14686
Pull Down
10866662
Intra CREBBP Q92793 SREBF1 Homo sapiens P36956-1
Pull Down
16799563
Intra CREBBP Q92793 SREBF1 Homo sapiens P36956-3
Pull Down
16799563
Intra CREBBP Q92793 IFNAR2 Homo sapiens P48551
Anti Bait CoIP
17923090
Cross CREBBP Q92793 e1a_ade05 Human adenovirus C P03255
Pull Down
9018065
Cross CREBBP Q92793 p03259-2 Human adenovirus A P03259-2
Pull Down
10722738
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hematologic Cancer

Hematologic Neoplasm

Hematologic Malignancies

Hematologic Neoplasms

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Squamous Cell Skin Cancer

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Da Silva Syndrome

Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Menke-Hennekam Syndrome
Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml M4

Ammol

Acute Myeloblastic Leukemia Type 4

Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16

16)(P13

Q22)

Aml-M4

Aml With Inv(16)(P13.1q22) Or T(16

16)(P13.1

Q22)

Cbfb-Myh11

Leukemia Myelomonocytic Acute

Acute Myelomonocytic Leukaemia Without Mention Of Remission

Myelomonocytic Leukaemia Nos

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Hair Follicle Neoplasm

Hair Matrix Neoplasm

Hair Matrix Tumour

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Scoliosis
Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Rare Genetic Intellectual Disability
Huntington Disease

Huntington'S Disease

Huntington Chorea

HD

Huntington'S Chorea

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4

Autosomal Dominant Non-Syndromic Intellectual Disability 4

Mental Retardation, Autosomal Dominant 4

Autosomal Dominant Intellectual Developmental Disorder 4

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Head And Neck Cancer

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Cancer, Head/Neck

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Retinal Degeneration

Degeneration Of Retina

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Skin Melanoma

Cutaneous Melanoma

Malignant Ear Melanoma

Malignant Lip Melanoma

Malignant Lower Limb Melanoma

Malignant Melanoma Of Ear And/Or External Auricular Canal

Malignant Melanoma Of Skin Of Lower Limb

Malignant Melanoma Of Skin Of Trunk Except Scrotum

Malignant Melanoma Of Skin Of Upper Limb

Malignant Neck Melanoma

Malignant Scalp Melanoma

Malignant Trunk Melanoma

Malignant Upper Limb Melanoma

Melanoma, Cutaneous Malignant

Melanoma

Malignant Melanoma Of Skin

Melanoma Nos

Malignant Mole, Meaning Melanoma Of Unspecified Site

Melanoma Of Unspecified Site

Cutaneous Malignant Melanoma

Mm - [Malignant Melanoma]

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Corpus Callosum, Agenesis Of

Corpus Callosum Agenesis

Agenesis Of The Corpus Callosum

Isolated Corpus Callosum Agenesis

Acc

Non Rare In Europe: Isolated Corpus Callosum Agenesis

Congenital Malformation Of Corpus Callosum

Deformity Of Corpus Callosum

Absence Of Corpus Callosum

Absent Corpus Callosum

Acc - [Agenesis Of Corpus Callosum]

Aplasia Of Corpus Callosum

Congenital Absence Of Corpus Callosum

Hypoplastic Corpus Callosum

Hypoplasia Of Corpus Callosum

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Rubinstein-Taybi Syndrome 1

Broad Thumb-Hallux Syndrome

Rubinstein-Taybi Syndrome Due To Crebbp Mutations

RSTS1

Rsts

Rubinstein Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rubinstein-Taybi Syndrome, Type 1

Rubinstein-Taybi Syndrome

Cornelia De Lange Syndrome 2

CDLS2

Cornelia De Lange Syndrome, X-Linked

Cdls, X-Linked

Cornelia De Lange Syndrome X-Linked

Cornelia De Lange Syndrome, Type 2

Congenital Muscular Hypertrophy-Cerebral Syndrome

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Mental Retardation, Autosomal Dominant, Type 31

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Floating-Harbor Syndrome

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome

Pilomatrixoma

Pilomatricoma

PTR

Epithelioma Calcificans Of Malherbe

Benign Pilomatricoma

Calcifying Epithelioma Of Malherbe

Pilomatricoma, Somatic

Benign Pilomatrixoma

Malherbe Calcifying Epithelioma

Giant Cell Glioblastoma

Monstrocellular Sarcoma

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Menke-Hennekam Syndrome 1

MKHK1

Menke-Hennekam Syndrome, Type 1

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit

Hgbl-Dh/Th

High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements

High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement

Ezb Diffuse Large B-Cell Lymphoma

Ezb Dlbcl

Doid:0081065

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma

Bartholin'S Gland Adenoid Cystic Carcinoma

Bartholin Gland Adenoid Cystic Carcinoma

Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation

Aml With T(8

16)(P11

P13) Translocation

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1

Taybi Syndrome

OPD1

Opd Syndrome 1

Oto-Palato-Digital Syndrome Type 1

Opd I Syndrome

Oto-Palato-Digital Syndrome, Type I

Otopalatodigital Syndrome Type I

Opd Syndrome

Cranioorodigital Syndrome

Faciopalatoosseous Syndrome

Fpo

Opd Syndrome, Type 1

Otopalatodigital Syndrome 1

Cervical Cancer

Cervical Cancer, Somatic

Neoplasm Of Uterine Cervix

Cervix Cancer

Uterine Cervical Neoplasm

Cervical Neoplasm

Cervix Uteri Cancer

Tumor Of The Cervix Uteri

CERCA

Uterine Cervical Cancer

Neoplasms Cervical

Uterine Cervical Neoplasms

Cervical Cancers

Cancer, Cervical, Somatic

Malignant Tumor Of Cervix

Cervix Carcinoma

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Diabetes Mellitus, Non-Insulin-Dependent

Type 2 Diabetes

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Tethered Spinal Cord Syndrome

Spinal Dysraphism

Tethered Cord Syndrome

Occult Spinal Dysraphism

Occult Spinal Dysraphism Sequence

Segmental Vertebral Anomalies

Tethered Spinal Cord Disease

Tethered Cord

Spina Bifida Occulta

Cryptomerorachischisis

Spina Bifida Occulta With Tethered Spinal Cord

Sbo - [Spina Bifida Occulta]

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Leukemia, Acute Monocytic

Acute Monocytic Leukemia

Acute Monoblastic Leukemia And Acute Monocytic Leukemia

Acute Monocytic Leukaemia

Acute Monocytic Leukaemia Without Mention Of Remission

Acute Monocytic Leukemia Without Mention Of Remission

Acute Monocytic Leukemia, Fab M5

Acute Monocytic Leukemia, Morphology

Leukemia, Monocytic, Acute

M5b Acute Differentiated Monocytic Leukemia

Myeloma, Multiple

Multiple Myeloma

Kahler Disease

Myelomatosis

Plasma Cell Myeloma

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler'S Disease

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Spasticity
Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Hypertrichosis
Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Bladder Small Cell Carcinoma

Small Cell Bladder Cancer

Small Cell Carcinoma Of The Bladder

Poorly Differentiated Neuroendocrine Carcinoma Of The Bladder

Sccb

Small Cell Bladder Carcinoma

Small Cell Carcinoma Of The Urinary Bladder

Chromosomal Deletion Syndrome
Pectus Carinatum

Carinatum Deformity Of The Chest

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Chromosome 16p13.3 Duplication Syndrome

16p13.3 Microduplication Syndrome

Distal Duplication 16p

Distal Trisomy 16p

Telomeric Duplication 16p

Dup(16)(P13.3)

Trisomy 16pter

Chromosome 16p13.3 Duplication

16p13.3 Duplication

Interstitial 16p13.3 Duplication

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Neonatal Leukemia
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Interatrial Communication

Asd

Atrial Septal Defect

Interauricular Communication

Thumb Deformity

Thumb Absent Or Hypoplastic

Thumb Hypoplastic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris CREBBP VGNC VGNC:39601
Mus musculus CREBBP MGD MGI:1098280
Felis catus CREBBP VGNC VGNC:61171
Rattus norvegicus CREBBP RGD RGD:2401
Bos taurus CREBBP VGNC VGNC:27698
Macaca mulatta CREBBP VGNC VGNC:71487
Others CREBBP NCBI