EZH2 - enhancer of zeste 2 polycomb repressive complex 2 subunit Gene

Also Known as WVS; ENX1; KMT6; WVS2; ENX-1; EZH2b; KMT6A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2146

About EZH2

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:148,807,383-148,884,291 (from NCBI)

This gene has 20 transcripts (splice variants), 237 orthologues, 19 paralogues and is associated with 118 phenotypes. Broad expression in bone marrow (RPKM 9.3), testis (RPKM 8.6) and 14 other tissues.

Summary

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

EZH2 Products (43)

mRNA Protein Name
XM_047420000.1 XP_047275956.1 histone-lysine N-methyltransferase EZH2 isoform X19
XM_011515894.3 XP_011514196.1 histone-lysine N-methyltransferase EZH2 isoform X15
XM_011515893.3 XP_011514195.1 histone-lysine N-methyltransferase EZH2 isoform X14
XM_047420008.1 XP_047275964.1 histone-lysine N-methyltransferase EZH2 isoform X29
XM_011515895.3 XP_011514197.1 histone-lysine N-methyltransferase EZH2 isoform X17
XM_011515892.3 XP_011514194.1 histone-lysine N-methyltransferase EZH2 isoform X13
XM_005249964.5 XP_005250021.1 histone-lysine N-methyltransferase EZH2 isoform X22
NM_001203247.2 NP_001190176.1 histone-lysine N-methyltransferase EZH2 isoform c
NM_001203249.2 NP_001190178.1 histone-lysine N-methyltransferase EZH2 isoform e
XM_011515887.4 XP_011514189.1 histone-lysine N-methyltransferase EZH2 isoform X8
XM_011515896.3 XP_011514198.1 histone-lysine N-methyltransferase EZH2 isoform X24
XM_047419989.1 XP_047275945.1 histone-lysine N-methyltransferase EZH2 isoform X1
XM_047419997.1 XP_047275953.1 histone-lysine N-methyltransferase EZH2 isoform X10
XM_011515901.4 XP_011514203.1 histone-lysine N-methyltransferase EZH2 isoform X29
XM_047420002.1 XP_047275958.1 histone-lysine N-methyltransferase EZH2 isoform X23
XM_047420001.1 XP_047275957.1 histone-lysine N-methyltransferase EZH2 isoform X20
NM_001203248.2 NP_001190177.1 histone-lysine N-methyltransferase EZH2 isoform d
XM_011515883.3 XP_011514185.1 histone-lysine N-methyltransferase EZH2 isoform X1
XM_011515885.3 XP_011514187.1 histone-lysine N-methyltransferase EZH2 isoform X4
XM_047420009.1 XP_047275965.1 histone-lysine N-methyltransferase EZH2 isoform X30
XM_017011817.3 XP_016867306.1 histone-lysine N-methyltransferase EZH2 isoform X1
XM_047419993.1 XP_047275949.1 histone-lysine N-methyltransferase EZH2 isoform X6
NM_004456.5 NP_004447.2 histone-lysine N-methyltransferase EZH2 isoform a
XM_047419995.1 XP_047275951.1 histone-lysine N-methyltransferase EZH2 isoform X7
XM_047419999.1 XP_047275955.1 histone-lysine N-methyltransferase EZH2 isoform X18
XM_017011819.2 XP_016867308.1 histone-lysine N-methyltransferase EZH2 isoform X16
XM_047419994.1 XP_047275950.1 histone-lysine N-methyltransferase EZH2 isoform X6
XM_047419990.1 XP_047275946.1 histone-lysine N-methyltransferase EZH2 isoform X2
XM_017011820.3 XP_016867309.1 histone-lysine N-methyltransferase EZH2 isoform X21
XM_047419991.1 XP_047275947.1 histone-lysine N-methyltransferase EZH2 isoform X3
NM_152998.3 NP_694543.1 histone-lysine N-methyltransferase EZH2 isoform b
XM_005249962.5 XP_005250019.1 histone-lysine N-methyltransferase EZH2 isoform X2
XM_047420006.1 XP_047275962.1 histone-lysine N-methyltransferase EZH2 isoform X26
XM_047420007.1 XP_047275963.1 histone-lysine N-methyltransferase EZH2 isoform X28
XM_047419998.1 XP_047275954.1 histone-lysine N-methyltransferase EZH2 isoform X14
XM_047419996.1 XP_047275952.1 histone-lysine N-methyltransferase EZH2 isoform X9
XM_047420004.1 XP_047275960.1 histone-lysine N-methyltransferase EZH2 isoform X25
XM_011515899.4 XP_011514201.1 histone-lysine N-methyltransferase EZH2 isoform X27
XM_005249963.5 XP_005250020.1 histone-lysine N-methyltransferase EZH2 isoform X6
XM_047420005.1 XP_047275961.1 histone-lysine N-methyltransferase EZH2 isoform X26
XM_011515889.3 XP_011514191.1 histone-lysine N-methyltransferase EZH2 isoform X11
XM_011515890.3 XP_011514192.1 histone-lysine N-methyltransferase EZH2 isoform X12
XM_047419992.1 XP_047275948.1 histone-lysine N-methyltransferase EZH2 isoform X5
Molecular Function GO Annotation Evidence References Source
enables RNA binding EXP
EXP: Inferred from Experiment
35682829 GOA
enables chromatin DNA binding IDA
IDA: Inferred from direct assay
19734898 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
20154697 GOA
enables histone H3K27 methyltransferase activity IDA
IDA: Inferred from direct assay
15385962 GOA
enables histone H3K27 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
28229514 GOA
enables histone binding IDA
IDA: Inferred from direct assay
33479123 GOA
enables histone methyltransferase activity IMP
IMP: Inferred from mutant phenotype
26694085 GOA
enables nucleosome binding IDA
IDA: Inferred from direct assay
33479123 GOA
enables promoter-specific chromatin binding IDA
IDA: Inferred from direct assay
24623306 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11571280 GOA
enables protein-lysine N-methyltransferase activity IDA
IDA: Inferred from direct assay
19144645 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
29628311 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
16179254 GOA
involved in negative regulation of gene expression, epigenetic IDA
IDA: Inferred from direct assay
20154697 GOA
involved in negative regulation of gene expression, epigenetic IMP
IMP: Inferred from mutant phenotype
24623306 GOA
involved in negative regulation of retinoic acid receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
16179254 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
20154697 GOA
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
20154697 GOA
involved in positive regulation of MAP kinase activity IDA
IDA: Inferred from direct assay
20154697 GOA
involved in positive regulation of cell cycle G1/S phase transition IMP
IMP: Inferred from mutant phenotype
18713946 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
35609316 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
18713946 GOA
involved in positive regulation of epithelial to mesenchymal transition IDA
IDA: Inferred from direct assay
20154697 GOA
involved in positive regulation of protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
20154697 GOA
involved in regulation of circadian rhythm IMP
IMP: Inferred from mutant phenotype
16717091 GOA
involved in regulatory ncRNA-mediated heterochromatin formation IGI
IGI: Inferred from genetic interaction
23435381 GOA
involved in subtelomeric heterochromatin formation IGI
IGI: Inferred from genetic interaction
9214638 GOA
Cellular Component GO Annotation Evidence References Source
part of ESC/E(Z) complex IDA
IDA: Inferred from direct assay
15385962 GOA
located in chromatin IDA
IDA: Inferred from direct assay
19734898 GOA
is active in chromosome IDA
IDA: Inferred from direct assay
19734898 GOA
located in chromosome, telomeric region IGI
IGI: Inferred from genetic interaction
9214638 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19144645 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

EZH2 Protein Structure

EZH2_WD-Binding

EZH2_WD-Binding: WD repeat binding protein EZH2 (39 - 68)

SET

SET: SET domain (628 - 731)

  • 0
  • 200
  • 400
  • 600
  • 751 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase EZH2

  • enhancer of zeste homolog 2

  • lysine N-methyltransferase 6

EZH2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 24183680
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 26496610
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022
TAP
27705803
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 20075857
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 33961781
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 23238014
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 34591612
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 20543829
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 23684459
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 37553330
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 27728805
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 19734898
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 22439931
Intra
EZH2 Q15910 SUZ12 Homo sapiens Q15022 23079660
Intra
EZH2 Q15910 JARID2 Homo sapiens Q92833-1 20075857
Intra
EZH2 Q15910 JARID2 Homo sapiens Q92833-1 20075857
Intra
EZH2 Q15910 ASXL1 Homo sapiens Q8IXJ9 22897849
Cross
EZH2 Q15910 Dnmt3l Mus musculus Q9CWR8 24074865
Intra
EZH2 Q15910 SUV39H1 Homo sapiens O43463 23455924
Intra
EZH2 Q15910 STAT3 Homo sapiens P40763 23684459
Intra
EZH2 Q15910 PHF1 Homo sapiens O43189 26496610
Intra
EZH2 Q15910 PHF1 Homo sapiens O43189
TAP
27705803
Intra
EZH2 Q15910 PHF1 Homo sapiens O43189 33961781
Intra
EZH2 Q15910 PHF1 Homo sapiens O43189 34591612
Intra
EZH2 Q15910 DNMT1 Homo sapiens P26358 16357870
Intra
EZH2 Q15910 DNMT1 Homo sapiens P26358 22094255
Intra
EZH2 Q15910 DNMT1 Homo sapiens P26358 16357870
Intra
EZH2 Q15910 CEP63 Homo sapiens Q96MT8 25416956
Intra
EZH2 Q15910 DNMT3B Homo sapiens Q9UBC3 24074865
Intra
EZH2 Q15910 DNMT3B Homo sapiens Q9UBC3 27728808
Intra
EZH2 Q15910 DNMT3B Homo sapiens Q9UBC3 16357870
Intra
EZH2 Q15910 PML-RAR Homo sapiens Q15156 17560333
Intra
EZH2 Q15910 PML-RAR Homo sapiens Q15156 17560333
Intra
EZH2 Q15910 DNMT3A Homo sapiens Q9Y6K1 16357870
Intra
EZH2 Q15910 DNMT3A Homo sapiens Q9Y6K1 16357870
Intra
EZH2 Q15910 DNMT3A Homo sapiens Q9Y6K1 24074865
Intra
EZH2 Q15910 EED Homo sapiens O75530 26496610
Intra
EZH2 Q15910 EED Homo sapiens O75530 34591612
Intra
EZH2 Q15910 EED Homo sapiens O75530 22094255
Intra
EZH2 Q15910 EED Homo sapiens O75530 22897849
Intra
EZH2 Q15910 EED Homo sapiens O75530 22439931
Intra
EZH2 Q15910 EED Homo sapiens O75530 33961781
Intra
EZH2 Q15910 EED Homo sapiens O75530
TAP
27705803
Intra
EZH2 Q15910 EED Homo sapiens O75530
TAP
24981860
Intra
EZH2 Q15910 FOXP3 Homo sapiens Q9BZS1 30510991
Intra
EZH2 Q15910 FOXP3 Homo sapiens Q9BZS1 30510991
Intra
EZH2 Q15910 FOXP3 Homo sapiens Q9BZS1
PLA
30510991
Cross: Cross-species interaction Intra: Intraspecies interaction

EZH2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80507 KMT6/EZH2 Antibody (YA320) IHC-P, ICC/IF Human
HY-P83287 KMT6/EZH2 Antibody (YA3032) WB Human
HY-P83287A KMT6/EZH2 Antibody (YA3032)(PBS only) WB Human
HY-P86229 KMT6/EZH2 Antibody (YA5921) WB, IHC-P, ICC/IF, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Chronic Leukemia
  • Adult Chronic Leukemia

  • Cll

  • Cml

Tatton-Brown-Rahman Syndrome
  • TBRS

  • Dnmt3a Overgrowth Syndrome

  • Tatton-Brown-Rahman Overgrowth Syndrome

  • Dos

  • Dnmt3a-Related Overgrowth Syndrome

  • Doid:0112339

  • Dose

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

Lymphoma
  • Lymphoid Cancer

  • Lymphomas

  • Lymphoid Cancers

  • Lymphoid Neoplasm

  • Lymphoma Nos

  • Nhl - [Non-Hodgkin Lymphoma]

  • Non-Hodgkin Lymphoma

  • Non-Hodgkin Lymphoma, Nos

  • Non-Hodgkin Malignant Lymphoma Nos

Transitional Cell Carcinoma
  • Transitional Cell Neoplasm

  • Carcinoma, Transitional Cell

  • Transitional Carcinoma

  • Transitional Cell Tumor

  • Urothelial Cell Carcinoma

  • Carcinoma Transitional Cell

  • Transitional Cell Carcinoma Of Bladder

Essential Thrombocythemia
  • Essential Thrombocytosis

  • Familial Thrombocytosis

  • Hemorrhagic Thrombocythemia

  • Hereditary Thrombocythemia

  • Primary Thrombocytosis

  • Idiopathic Thrombocythemia

  • Primary Thrombocythemia

  • Thrombocythemia, Essential

  • Essential Thrombocythaemia

  • Et

  • Familial Thrombocythemia

  • Thrombocythemia Essential

Breast Cancer
  • Breast Carcinoma

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Male Breast Cancer

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Lymphoma, Non-Hodgkin, Familial
  • Non-Hodgkin Lymphoma

  • Lymphoma, Non-Hodgkin

  • NHL

  • Lymphoma, Non-Hodgkin, Somatic

  • Lymphoma, Follicular, Somatic

  • Familial Non-Hodgkin Lymphoma

  • Lymphoma Non-Hodgkins

  • Follicular Lymphoma, Somatic

  • Lymphosarcoma

  • Non-Hodgkins Lymphoma

Myelofibrosis
  • Primary Myelofibrosis

  • Agnogenic Myeloid Metaplasia

  • Idiopathic Myelofibrosis

  • Myeloid Metaplasia

  • Myelofibrosis With Myeloid Metaplasia

  • Osteomyelofibrosis

  • Megakaryocytic Myelosclerosis

  • Myelosclerosis

  • Chronic Idiopathic Myelofibrosis

  • Myelofibrosis, Idiopathic

  • Myelofibrosis With Myeloid Metaplasia, Somatic

  • Myelofibrosis, Somatic

  • Aleukemic Myelosis

  • Bone Marrow Fibrosis

  • MYELOF

  • MMM

  • Agnogenic Myeloid Metaplasia With Myelofibrosis

  • Ammm

  • Myelosclerosis With Myeloid Metaplasia

  • Myelofibrosis Nos

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Rhabdoid Cancer
  • Rhabdoid Tumor

  • Malignant Rhabdoid Tumor

  • Malignant Rhabdoid Tumour

  • Rhabdoid Sarcoma

  • Rhabdoid Tumor Predisposition Syndrome 1

  • Rhabdoid Tumor Predisposition Syndrome 2

  • Atypical Teratoid Rhabdoid Tumor

  • Brain Tumor, Posterior Fossa, Of Infancy, Familial

  • Atypical Teratoid/Rhabdoid Tumor

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Protection Against

  • Lung Cancer, Susceptibility To

  • Adenocarcinoma Of Lung, Somatic

  • Nonsmall Cell Lung Cancer

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Gastric Cancer
  • Stomach Cancer

  • Stomach Carcinoma

  • Gastric Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Melanoma, Uveal
  • Uveal Melanoma

  • Choroidal Melanoma

  • Melanoma Of Uvea

  • Iris Melanoma

  • Malignant Melanoma Of Choroid

  • Malignant Melanoma Of Iris

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

Chronic Myelomonocytic Leukemia
  • Leukemia, Myelomonocytic, Chronic

  • Cmml

  • Leukemia Myelomonocytic Chronic

  • Cmml - [Chronic Myelomonocytic Leukaemia]

  • Chronic Myelomonocytic Leukaemia Without Mention Of Remission

  • Chronic Monocytic Leukaemia

  • Chronic Monocytoid Leukaemia

Malignant Pleural Mesothelioma
  • Malignant Mesothelioma Of Pleura

  • Pleural Malignant Mesothelioma

Chordoma
  • CHDM

  • Notochordoma

  • Notochordal Sarcoma

  • Chordoma, Susceptibility To

  • Chordocarcinoma

  • Chordoepithelioma

Sotos Syndrome
  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Atypical

  • Rett Syndrome, Preserved Speech Variant

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Rett Disorder

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

B-Cell Lymphoma
  • Lymphoma, B-Cell

  • B-Cell Lymphomas

  • B-Cell Lymphocytic Neoplasm

  • Lymphoma B-Cell

  • B-Cell Lymphoma Nos

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Ewing Sarcoma
  • Neuroepithelioma

  • Ewing'S Tumor

  • Ewings Sarcoma

  • Ewing'S Sarcoma

  • Peripheral Neuroepithelioma

  • Primitive Neuroectodermal Tumor

  • ES

  • Ewings Sarcoma-Primitive Neuroectodermal Tumor

  • Localized Peripheral Primitive Neuroectodermal Tumor

  • Peripheral Primitive Neuroectodermal Tumor

  • Ewing Tumor

  • Sarcoma, Ewing'S

  • Extraosseous Ewing Tumor

  • Askin Tumor

  • Ewing'S Family Localized Tumor

  • Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing Sarcoma

  • Localized Ewing'S Sarcoma

  • Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing'S Tumor

  • Pnet Of Thoracopulmonary Region

  • Ewing Family Of Tumors

  • Tumor Of The Ewing Family

  • Skeletal Ewing Sarcoma

  • Osseous Ewing Sarcoma

  • Ppnet

  • Peripheral Pnet

  • Extraskeletal Ewing Sarcoma

  • Eoe

  • Extraosseous Ewing Sarcoma

  • Extraskeletal Ewing Tumor

  • Esft

  • Ewing Sarcoma Family Of Tumors

  • Pne

  • Pnet

  • Pnet Of The Chest Wall

  • Sarcoma, Ewing

  • Neuroectodermal Tumors, Primitive, Peripheral

  • Neuroectodermal Tumor, Primitive

  • Disorder Of Eye

  • Askin'S Tumor

  • Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

  • Neuroepithelioma, Peripheral

Ovarian Clear Cell Carcinoma
  • Clear-Cell Ovarian Carcinoma

Breast Myoepithelial Carcinoma
Suppression Of Tumorigenicity 12
  • Prostate Adenocarcinoma

  • Adenocarcinoma Of Prostate

  • ST12

  • Prostate Adenocarcinoma 1

  • Pac1

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

Diffuse Midline Glioma, H3 K27m-Mutant
  • Diffuse Intrinsic Pontine Glioma

  • Dipg

  • Infiltrative Brainstem Glioma

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Histone Mutated Tumor
  • Histone Mutated Tumour

Atypical Teratoid Rhabdoid Tumor
  • Rhabdoid Tumor Predisposition Syndrome

  • Rtps

  • Atypical Teratoid/Rhabdoid Tumor

  • Rhabdoid Predisposition Syndrome

  • Familial Posterior Fossa Brain Tumor Of Infancy

  • Familial Rhabdoid Tumor

  • At/Rt

  • Atypical Teratoid Rhabdoid Tumour

  • Atypical Teratoid/Rhabdoid Tumour

  • Rhabdoid Tumor Of The Cns

  • Rhabdoid Tumour Of The Cns

  • Familial Posterior Fossa Brain Tumor Syndrome

  • Hereditary Swi/Snf Deficiency Syndrome

  • Atrt

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Melanoma, Malignant

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Esophageal Cancer
  • Esophageal Carcinoma

  • Carcinoma Of Esophagus

  • Esophageal Squamous Cell Carcinoma, Somatic

  • Esophageal Carcinoma, Somatic

  • Esophagus Cancer

  • Gastric Cardia Adenocarcinoma

  • Esophageal Neoplasms

  • Esophageal Cancer, Somatic

  • Cancer Of Esophagus

  • Cancer Of Oesophagus

  • Carcinoma Of Oesophagus

  • Ca Lower Third Oesophagus

  • Ca Middle Third Oesophagus

  • Malignant Neoplasm Of Distal Third Of Esophagus

  • Malignant Neoplasm Of Lower Third Of Oesophagus

  • Malignant Neoplasm Of Middle Third Of Oesophagus

  • Malignant Neoplasm Of Proximal Third Of Esophagus

  • Malignant Neoplasm Of Upper Third Esophagus

  • Malignant Tumor Of Abdominal Esophagus

  • Malignant Tumor Of Distal Third Of Esophagus

  • Malignant Tumor Of Proximal Third Of Esophagus

  • Malignant Tumor Of The Middle Third Of The Esophagus

  • ESCR

  • Aerodigestive Tract Cancer

  • Escc

  • Esophageal Squamous Cell Carcinoma

  • Cancer, Esophageal

  • Malignant Neoplasm Of Esophagus

  • Squamous Cell Carcinoma Of Esophagus

  • Malignant Neoplasm Of Middle Third Of Esophagus

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

Ezb Diffuse Large B-Cell Lymphoma
  • Ezb Dlbcl

  • Doid:0081065

Mantle Cell Lymphoma
  • Lymphoma, Mantle Cell

  • Lcm

  • Mcl

  • Mantle Zone Lymphoma

  • Lymphoma Mantle-Cell

  • Lymphoma, Mantle-Cell

  • Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

  • Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

  • Diffuse Small Cleaved-Cell Lymphoma

  • Diffuse Small Cleaved Cell Malignant Lymphoma

  • Small Cleaved Cell Non-Hodgkin Lymphoma

  • Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

  • Malignant Lymphomatous Polyposis

  • Malignant Small Cell, Noncleaved, Diffuse Lymphoma

  • Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

  • Cleaved Cell Lymphoma

  • Small Cell Mantle Cell Lymphoma

  • Small Cleaved Cell Malignant Lymphoma

Thyroid Gland Anaplastic Carcinoma
  • Anaplastic Thyroid Carcinoma

  • Anaplastic Thyroid Cancer

  • Thyroid Cancer, Anaplastic

  • Thyroid Carcinoma, Anaplastic

  • Thyroid Carcinoma Anaplastic

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Epithelioid Sarcoma
  • Epithelioid Cell Sarcoma

  • Sarcoma Epithelioid

  • Sarcoma, Epithelioid

Rhabdomyosarcoma
Primary Hyperoxaluria
  • Hyperoxaluria, Primary

  • Oxalosis

  • Hyperoxaluria

  • Primary Oxalosis

  • Congenital Oxaluria

  • D-Glycerate Dehydrogenase Deficiency

  • Glyceric Aciduria

  • Glycolic Aciduria

  • Hepatic Agt Deficiency

  • Oxaluria, Primary

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Primary Oxaluria

  • Hyperoxaluria Primary

  • Primary Hyperoxaluria Type 2

  • Primary Hyperoxaluria, Type I

Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Myeloproliferative Neoplasm
  • Myeloproliferative Disorder

  • Chronic Myeloproliferative Disease

  • Myeloproliferative Neoplasms

  • Chronic Myeloproliferative Disorder

  • Cmpd

  • Cmpd, U

  • Chronic Myeloproliferative Disorders

  • Mpd

  • Mpn

  • Myeloproliferative Disorders

  • Myeloproliferative Disease

  • Campomelic Dysplasia

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Cholangiocarcinoma
  • Cholangiocarcinoma, Susceptibility To

  • Extrahepatic Cholangiocarcinoma

  • Intrahepatic Cholangiocarcinoma

  • Chlc

  • Chlc, Susceptibility To

  • Cc

  • Cholangiocarcinoma Of Biliary Tract

  • Cholangiocellular Carcinoma

  • Distal Cholangiocarcinoma

  • Perihilar Cholangiocarcinoma

  • Bile Duct Cancer

  • Cca

  • Adult Primary Cholangiocellular Carcinoma

  • Bile Duct Carcinoma

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

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

Bone Marrow Cancer
  • Malignant Neoplasm Of Bone Marrow

  • Bone Marrow Neoplasm

  • Bone Marrow Tumor

  • Malignant Bone Marrow Tumor

  • Myeloproliferative Disorders

  • Bone Marrow Neoplasms

  • Myeloproliferative Disease

  • Chronic Myeloproliferative Disorder

Gallbladder Cancer
  • Gallbladder Carcinoma

  • Gallbladder Neoplasm

  • Malignant Neoplasm Of Gallbladder

  • Malignant Tumour Of Gallbladder

  • Gallbladder Ca

  • Localized Malignant Gallbladder Neoplasm

  • Malignant Tumor Of The Gallbladder

  • Tumor Of The Gallbladder

  • Cancer Of The Gallbladder

  • Carcinoma Gallbladder

  • Carcinoma Of Gallbladder

  • Gallbladder Neoplasms

  • Malignant Neoplasm Of Gallbladder Localized

  • Cancer Of Gallbladder

  • Primary Malignant Neoplasm Of Gallbladder

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Cancer Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Bladder Cancer
  • Urinary Bladder Cancer

  • Bladder Carcinoma

  • Urinary Bladder Carcinoma

  • Bladder Neoplasm

  • Bladder Tumor

  • Cancer, Bladder

  • Malignant Neoplasm Of Urinary Bladder

  • Carcinoma Of Bladder

  • Bladder Cancer, Somatic

  • Tumor Of The Bladder

  • Carcinoma Of Urinary Bladder

  • Bladder Carcinoma Urinary

  • Cancer Of The Urinary Bladder

  • Cancer, Urinary Bladder

  • Malignant Bladder Neoplasm

  • Malignant Bladder Tumor

  • Neoplasm Of The Bladder

  • Neoplasm Of The Urinary Bladder

  • Tumor Of The Urinary Bladder

  • Urinary Bladder Neoplasm

  • BLC

  • Urothelial Carcinoma Of The Bladder

  • Bladder Tumors

  • Urinary Bladder Neoplasms

  • Bladder Cancer Nos

  • Vesical Cancer Nos

  • Malignant Neoplasm Of Bladder, Part Unspecified

  • Malignant Tumour Of Urinary Bladder

  • Primary Malignant Neoplasm Of Bladder

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

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

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]

Nasopharyngeal Carcinoma
  • Malignant Neoplasm Of Nasopharynx

  • Npc

  • Nasopharyngeal Cancer

  • Nasopharyngeal Carcinoma 1

  • Nasopharynx Carcinoma

  • Nasopharyngeal Neoplasms

  • Npca

  • Carcinoma Of Nasopharynx

  • Malignant Nasopharyngeal Tumor

  • Nasopharynx Cancer

  • Squamous Cell Carcinoma Of The Nasopharynx

  • Nasopharyngeal Neoplasm

  • Cancer Of Nasopharynx

Hyperoxaluria, Primary, Type I
  • Primary Hyperoxaluria Type 1

  • HP1

  • Glycolic Aciduria

  • Alanine-Glyoxylate Aminotransferase Deficiency

  • Hepatic Agt Deficiency

  • Oxalosis I

  • Primary Hyperoxaluria, Type I

  • Serine:Pyruvate Aminotransferase Deficiency

  • Hyperoxaluria, Primary, Type 1

  • Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

  • Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

  • Serine Pyruvate Aminotransferase Deficiency

  • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

  • Oxalosis 1

  • Hyperoxaluria Primary 1

  • Hyperoxaluria Primary Type I

  • Ph1

  • Primary Hyperoxaluria Type I

  • Oxalosis Type 1

  • 2-Oxoglutarate Glyoxylate Carboligase Deficiency

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

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
Felis catus EZH2 VGNC VGNC:62018
Rattus norvegicus EZH2 RGD RGD:1595860
Mus musculus EZH2 MGD MGI:107940
Canis familiaris EZH2 VGNC VGNC:40541
Macaca mulatta EZH2 VGNC VGNC:72458
Bos taurus EZH2 VGNC VGNC:28675
Others EZH2 NCBI