CREBBP - CREB binding protein Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1387

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
Molecular Function GO Annotation Evidence References 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 References 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 References
Intra
CREBBP Q92793 MTDH Homo sapiens Q86UE4 18316612
Intra
CREBBP Q92793 COPS2 Homo sapiens P61201 23441852
Intra
CREBBP Q92793 FOXO1 Homo sapiens Q12778 15220471
Intra
CREBBP Q92793 FOXO3 Homo sapiens O43524 15126506
Intra
CREBBP Q92793 IRF3 Homo sapiens Q14653 20581830
Intra
CREBBP Q92793 IRF3 Homo sapiens Q14653 18309294
Intra
CREBBP Q92793 AKT1 Homo sapiens P31749 23434580
Intra
CREBBP Q92793 H4C16 Homo sapiens P62805
NMR
24361270
Intra
CREBBP Q92793 H4C16 Homo sapiens P62805 24361270
Intra
CREBBP Q92793 H4C16 Homo sapiens P62805 24361270
Intra
CREBBP Q92793 NAP1L1 Homo sapiens P55209 11940655
Intra
CREBBP Q92793 NAP1L1 Homo sapiens P55209
Y2H
11940655
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 10823891
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 19805293
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 10196247
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 19234109
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 14759370
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 9194564
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 9194564
Intra
CREBBP Q92793 TP53 Homo sapiens P04637 10196247
Intra
CREBBP Q92793 TBX21 Homo sapiens Q9UL17 17075044
Intra
CREBBP Q92793 HIF1A Homo sapiens Q16665 17382325
Intra
CREBBP Q92793 SREBF2 Homo sapiens Q12772 16799563
Intra
CREBBP Q92793 KAT2B Homo sapiens Q92831 8684459
Intra
CREBBP Q92793 AR Homo sapiens P10275 20541699
Intra
CREBBP Q92793 CREB1 Homo sapiens P16220 16799563
Intra
CREBBP Q92793 RELA Homo sapiens Q04206 17362989
Intra
CREBBP Q92793 NCOA6 Homo sapiens Q14686
GMS
12482968
Intra
CREBBP Q92793 NCOA6 Homo sapiens Q14686 10866662
Intra
CREBBP Q92793 SREBF1 Homo sapiens P36956-1 16799563
Intra
CREBBP Q92793 SREBF1 Homo sapiens P36956-3 16799563
Intra
CREBBP Q92793 IFNAR2 Homo sapiens P48551 17923090
Cross
CREBBP Q92793 e1a_ade05 Human adenovirus C P03255 9018065
Cross
CREBBP Q92793 p03259-2 Human adenovirus A P03259-2 10722738
Cross: Cross-species interaction Intra: Intraspecies interaction

CREBBP Antibodies

Cat. No. Product Name Application Reactivity
HY-P85800 CREBBP Antibody (YA5492) WB, ICC/IF, ELISA Human
HY-P86349 CREBBP Antibody (YA6041) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

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