TGFBR2 - transforming growth factor beta receptor 2 Gene

Also Known as AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; TGFbeta-RII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7048

About TGFBR2

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:30,606,356-30,694,142 (from NCBI)

This gene has 6 transcripts (splice variants), 263 orthologues, 11 paralogues and is associated with 122 phenotypes. Ubiquitous expression in fat (RPKM 81.0), lung (RPKM 74.9) and 25 other tissues.

Summary

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta Receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]

TGFBR2 Products (18)

mRNA Protein Name
NM_001407126.1 NP_001394055.1 TGF-beta receptor type-2 isoform C precursor
NM_001407132.1 NP_001394061.1 TGF-beta receptor type-2 isoform H
NM_001407138.1 NP_001394067.1 TGF-beta receptor type-2 isoform J
NM_001407134.1 NP_001394063.1 TGF-beta receptor type-2 isoform H
NM_001407130.1 NP_001394059.1 TGF-beta receptor type-2 isoform G precursor
XM_011534045.4 XP_011532347.1 TGF-beta receptor type-2 isoform X3
NM_001407137.1 NP_001394066.1 TGF-beta receptor type-2 isoform I precursor
NM_001407127.1 NP_001394056.1 TGF-beta receptor type-2 isoform D precursor
NM_003242.6 NP_003233.4 TGF-beta receptor type-2 isoform B precursor
NM_001407133.1 NP_001394062.1 TGF-beta receptor type-2 isoform H
XM_011534043.3 XP_011532345.1 TGF-beta receptor type-2 isoform X1
NM_001024847.3 NP_001020018.1 TGF-beta receptor type-2 isoform A precursor
XM_047448787.1 XP_047304743.1 TGF-beta receptor type-2 isoform X2
NM_001407139.1 NP_001394068.1 TGF-beta receptor type-2 isoform K precursor
NM_001407129.1 NP_001394058.1 TGF-beta receptor type-2 isoform F
NM_001407135.1 NP_001394064.1 TGF-beta receptor type-2 isoform H
NM_001407128.1 NP_001394057.1 TGF-beta receptor type-2 isoform E
NM_001407136.1 NP_001394065.1 TGF-beta receptor type-2 isoform H
Molecular Function GO Annotation Evidence References Source
enables SMAD binding IDA
IDA: Inferred from direct assay
11157754 GOA
enables glycosaminoglycan binding IDA
IDA: Inferred from direct assay
7852346 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
18243111 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7852346 GOA
enables transforming growth factor beta binding IDA
IDA: Inferred from direct assay
7852346 GOA
contributes to transforming growth factor beta binding IPI
IPI: Inferred from physical interaction
7852346 GOA
enables transforming growth factor beta binding IPI
IPI: Inferred from physical interaction
1326540 GOA
enables transforming growth factor beta receptor activity IDA
IDA: Inferred from direct assay
7852346 GOA
enables transforming growth factor beta receptor activity IMP
IMP: Inferred from mutant phenotype
1333888 GOA
enables transforming growth factor beta receptor activity, type II IDA
IDA: Inferred from direct assay
7774578 GOA
enables transmembrane receptor protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
12015308 GOA
enables type I transforming growth factor beta receptor binding IDA
IDA: Inferred from direct assay
11157754 GOA
enables type I transforming growth factor beta receptor binding IPI
IPI: Inferred from physical interaction
1333888 GOA
enables type III transforming growth factor beta receptor binding IDA
IDA: Inferred from direct assay
11157754 GOA
Biological Process GO Annotation Evidence References Source
involved in aorta morphogenesis IMP
IMP: Inferred from mutant phenotype
20101701 GOA
involved in aortic valve morphogenesis IMP
IMP: Inferred from mutant phenotype
20101701 GOA
involved in apoptotic process IDA
IDA: Inferred from direct assay
17471240 GOA
involved in artery morphogenesis IMP
IMP: Inferred from mutant phenotype
20101701 GOA
involved in epithelial to mesenchymal transition IMP
IMP: Inferred from mutant phenotype
28131417 GOA
involved in positive regulation of CD4-positive, alpha-beta T cell proliferation IDA
IDA: Inferred from direct assay
17164348 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: Inferred from direct assay
11157754 GOA
involved in positive regulation of SMAD protein signal transduction IMP
IMP: Inferred from mutant phenotype
24606633 GOA
involved in positive regulation of epithelial to mesenchymal transition IDA
IDA: Inferred from direct assay
26459119 GOA
involved in positive regulation of reactive oxygen species metabolic process IMP
IMP: Inferred from mutant phenotype
20160708 GOA
involved in regulation of stem cell differentiation IMP
IMP: Inferred from mutant phenotype
21490602 GOA
involved in response to cholesterol IDA
IDA: Inferred from direct assay
17878231 GOA
involved in response to xenobiotic stimulus IDA
IDA: Inferred from direct assay
17878231 GOA
involved in roof of mouth development IMP
IMP: Inferred from mutant phenotype
20101701 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
1333888 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
1333888 GOA
Cellular Component GO Annotation Evidence References Source
located in caveola IDA
IDA: Inferred from direct assay
17878231 GOA
located in external side of plasma membrane IDA
IDA: Inferred from direct assay
18453574 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
34568316 GOA
located in membrane IDA
IDA: Inferred from direct assay
7852346 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
25893292 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
25893292 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
7852346 GOA
part of transforming growth factor beta ligand-receptor complex IPI
IPI: Inferred from physical interaction
18243111 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

TGFBR2 Protein Structure

ecTbetaR2

ecTbetaR2: Transforming growth factor beta receptor 2 ectodomain (48 - 160)

Pkinase

Pkinase: Protein kinase domain (246 - 536)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 567 a.a.
Protein Preferred Names Protein Names

TGF-beta receptor type-2

  • TGF-beta receptor type IIB

  • TGF-beta type II receptor

  • transforming growth factor beta receptor II

  • transforming growth factor beta receptor type IIC

  • transforming growth factor, beta receptor II (70/80kDa)

  • transforming growth factor, beta receptor II alpha

  • transforming growth factor, beta receptor II beta

  • transforming growth factor, beta receptor II delta

  • transforming growth factor, beta receptor II epsilon

  • transforming growth factor, beta receptor II gamma

TGFBR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TGFBR2 P37173 TGFB3 Homo sapiens P10600
SPR
21423151
Intra
TGFBR2 P37173 TGFB3 Homo sapiens P10600 21423151
Intra
TGFBR2 P37173 NPLOC4 Homo sapiens Q8TAT6 32814053
Intra
TGFBR2 P37173 NPLOC4 Homo sapiens Q8TAT6 32814053
Intra
TGFBR2 P37173 NPLOC4 Homo sapiens Q8TAT6 32814053
Intra
TGFBR2 P37173 ATP2A3 Homo sapiens Q93084-2 32814053
Intra
TGFBR2 P37173 ATP2A3 Homo sapiens Q93084-2 32814053
Intra
TGFBR2 P37173 ATP2A3 Homo sapiens Q93084-2 32814053
Intra
TGFBR2 P37173 ISY1 Homo sapiens Q9ULR0 32814053
Intra
TGFBR2 P37173 ISY1 Homo sapiens Q9ULR0 32814053
Intra
TGFBR2 P37173 ISY1 Homo sapiens Q9ULR0 32814053
Intra
TGFBR2 P37173 RILP Homo sapiens Q96NA2 32814053
Intra
TGFBR2 P37173 RILP Homo sapiens Q96NA2 32814053
Intra
TGFBR2 P37173 RILP Homo sapiens Q96NA2 32814053
Intra
TGFBR2 P37173 ITGAV Homo sapiens P06756 32814053
Intra
TGFBR2 P37173 ITGAV Homo sapiens P06756 32814053
Intra
TGFBR2 P37173 ITGAV Homo sapiens P06756 32814053
Intra
TGFBR2 P37173 RPL37A Homo sapiens P61513 32814053
Intra
TGFBR2 P37173 MED12 Homo sapiens Q93074 23178117
Intra
TGFBR2 P37173 MED12 Homo sapiens Q93074 23178117
Intra
TGFBR2 P37173 MYC Homo sapiens P01106 32814053
Intra
TGFBR2 P37173 MYC Homo sapiens P01106 32814053
Intra
TGFBR2 P37173 MYC Homo sapiens P01106 32814053
Intra
TGFBR2 P37173 SCUBE3 Homo sapiens Q8IX30 21441952
Intra
TGFBR2 P37173 SCUBE3 Homo sapiens Q8IX30 21441952
Intra
TGFBR2 P37173 HTT Homo sapiens P42858 32814053
Intra
TGFBR2 P37173 HTT Homo sapiens P42858 32814053
Intra
TGFBR2 P37173 HTT Homo sapiens P42858 32814053
Intra
TGFBR2 P37173 PTN Homo sapiens P21246 32814053
Intra
TGFBR2 P37173 PTN Homo sapiens P21246 32814053
Intra
TGFBR2 P37173 PTN Homo sapiens P21246 32814053
Cross
TGFBR2 P37173 Med12 Mus musculus A2AGH6
PLA
23178117
Cross
TGFBR2 P37173 Med12 Mus musculus A2AGH6 23178117
Intra
TGFBR2 P37173 IDH1 Homo sapiens O75874 32814053
Intra
TGFBR2 P37173 IDH1 Homo sapiens O75874 32814053
Intra
TGFBR2 P37173 IDH1 Homo sapiens O75874 32814053
Intra
TGFBR2 P37173 DPYSL4 Homo sapiens O14531 32814053
Intra
TGFBR2 P37173 DPYSL4 Homo sapiens O14531 32814053
Intra
TGFBR2 P37173 DPYSL4 Homo sapiens O14531 32814053
Intra
TGFBR2 P37173 CDH1 Homo sapiens P12830 32814053
Intra
TGFBR2 P37173 CDH1 Homo sapiens P12830 32814053
Intra
TGFBR2 P37173 CDH1 Homo sapiens P12830 32814053
Intra
TGFBR2 P37173 DAXX Homo sapiens Q9UER7 11483955
Intra
TGFBR2 P37173 TGFB1 Homo sapiens P01137
SPR
21054789
Intra
TGFBR2 P37173 TGFB1 Homo sapiens P01137 35443807
Intra
TGFBR2 P37173 TGFB1 Homo sapiens P01137 21441952
Intra
TGFBR2 P37173 ATXN1 Homo sapiens P54253 32814053
Intra
TGFBR2 P37173 ATXN1 Homo sapiens P54253 32814053
Intra
TGFBR2 P37173 ATXN1 Homo sapiens P54253 32814053
Intra
TGFBR2 P37173 ATXN3 Homo sapiens P54252 32814053
Intra
TGFBR2 P37173 ATXN3 Homo sapiens P54252 32814053
Intra
TGFBR2 P37173 ATXN3 Homo sapiens P54252 32814053
Cross
TGFBR2 P37173 TGFB1 Sus scrofa P07200 16530041
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TGFBR2 Proteins

Cat. No. Product Name Accession Purity
HY-P7426 TGFBR2/TGF-beta RII Protein, Human (HEK293, Fc) P37173-1 (T23-D159) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P73428 TGFBR2/TGF-beta RII Protein, Human (sf9, His) P37173-1 (T23-Q166) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P78215 TGFBR2/TGF-beta RII Protein, Human (Biotinylated, HEK293, Fc-Avi) P37173-1 (I24-D159) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P78524 TGFBR2/TGF-beta RII Protein, Human (HEK293, mFc-Avi) P37173-1 (I24-D159) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P78800 TGFBR2/TGF-beta RII Protein, Human (Biotinylated, HEK293, His-Avi) P37173-1 (T23-D159) ≥ 90%, as determined by reducing SDS-PAGE.

TGFBR2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81131 TGF beta Receptor II Antibody WB, ELISA, IHC-P, ICC/IF Human, Mouse, Rat
HY-P85969 TGF beta Receptor II Antibody (YA5661) IHC-P, WB, ICC/IF, ELISA Human
HY-P86481 TGF beta Receptor II Antibody (YA6173) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Vitreoretinopathy, Neovascular Inflammatory
  • Proliferative Vitreoretinopathy

  • Adniv

  • Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

  • VRNI

  • Pvr

  • Neovascular Inflammatory Vitreoretinopathy

  • Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant

  • Retinitis Proliferans

  • Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant

  • Vitreoretinopathy Proliferative

  • Vitreoretinopathy, Proliferative

  • Proliferative Vitreo-Retinopathy

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Pulsating Exophthalmos
Mitral Valve Disease
  • Chronic Rheumatic Mitral Valve

  • Rheumatic Mitral Insufficiency

  • Disease Of Mitral Valve

  • Mitral Rh Valve Dis.

  • Rheumatic Disease Of Mitral Valve

  • Rheumatic Mitral Valve Changes

  • Rheumatic Mitral Valve Incompetence

  • Rheumatic Mitral Valve Regurgitation

  • Abnormality Of The Mitral Valve

  • Diseases Of Mitral Valve

  • Rheumatic Mitral Regurgitation

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

Colorectal Cancer 6
  • Colorectal Cancer, Susceptibility To, 6

  • CRCS6

  • Colorectal Cancer On Chromosome 8q23

  • Colorectal Cancer, Susceptibility To, On Chromosome 8q23

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

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

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

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

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

Loeys-Dietz Syndrome 1
  • Furlong Syndrome

  • Loeys-Dietz Aortic Aneurysm Syndrome

  • LDS1

  • Aat5

  • Loeys-Dietz Syndrome Type 1

  • Aortic Aneurysm, Familial Thoracic 5

  • Familial Throacic Aortic Aneurysm 5

  • Loeys-Dietz Syndrome

  • Aortic Aneurysm Syndrome, Loeys-Dietz Type

  • Familial Thoracic Aortic Aneurysm 5

  • Ldas

  • Marfanoid Disorder-Craniosynostosis Syndrome

  • Aneurysm, Aortic, Thoracic, Familial, Type 5

  • Loeys-Dietz Syndrome, Type 1

  • Loeys-Dietz Syndrome, Type 2a

Loeys-Dietz Syndrome 4
  • LDS4

  • Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

  • Loeys-Dietz Syndrome Type 4

  • Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

  • Loeys-Dietz Syndrome, Type 4

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

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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

Multiple Self-Healing Squamous Epithelioma
  • MSSE

  • Ess1

  • Ferguson-Smith Type Epithelioma

  • Ferguson-Smith Disease

  • Self-Healing Squamous Epithelioma Type 1

  • Multiple Self-Healing Squamous Epithelioma, Susceptibility To

  • Ferguson-Smith-Type Epithelioma

  • Ess1, Formerly

  • Multiple Self Healing Squamous Epithelioma

  • Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type

  • Multiple Keratoacanthoma, Ferguson-Smith Type

  • Epithelioma, Squamous, Multiple Self Healing

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Mitochondrial Dna Depletion Syndrome 12b
Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Disease, Susceptibility To

  • Coronary Artery Anomaly

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

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

Aortic Aneurysm, Familial Thoracic 4
  • AAT4

  • Faa4

  • Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus

  • Familial Aortic Aneurysm 4

  • Non-Syndromic Thoracic Aortic Aneurysms And Dissection

  • Taad

  • Thoracic Aortic Aneurysms And Dissection

  • Thoracic Aortic Aneurysms And Dissections

  • Aneurysm, Aortic, Thoracic, Familial, Type 4

Loeys-Dietz Syndrome 3
  • LDS3

  • Aneurysms-Osteoarthritis Syndrome

  • Loeys-Dietz Syndrome With Osteoarthritis

  • Aneurysm-Osteoarthritis Syndrome

  • Lds1c

  • Loeys-Dietz Syndrome, Type 3

  • Loeys-Dietz Syndrome, Type 1c, Formerly

  • Lds1c, Formerly

  • Loeys-Dietz Syndrome Type 1c

  • Loeys-Dietz Syndrome Type 3

  • Aneurysm - Osteoarthritis Syndrome

  • Loeys-Dietz Syndrome, Type 1c

  • Aos

  • Loeys-Dietz Syndrome 1c

Ectopia Lentis 2, Isolated, Autosomal Recessive
  • ECTOL2

  • Ectopia Lentis, Isolated, Autosomal Recessive

  • Autosomal Recessive Isolated Ectopia Lentis 2

  • Ectopia Lentis, Isolated Autosomal Recessive

  • Autosomal Recessive Isolated Ectopia Lentis

  • Ectopia Lentis, Isolated Autosomal Recessive, Type 2

Pancreatic Adenocarcinoma
  • Adenocarcinoma Of Pancreas

  • Adenocarcinoma Of The Pancreas

  • Pancreas Adenocarcinoma

  • Malignant Exocrine Neoplasm

  • Primary Pancreatic Adenocarcinoma

  • Adenocarcinoma Of Islet Cell Of Pancreas

  • Islet Cell Adenocarcinoma Of Unspecified Site

  • Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

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

Colorectal Cancer, Hereditary Nonpolyposis, Type 6
  • HNPCC6

  • Hereditary Nonpolyposis Colorectal Cancer Type 6

  • Colon Cancer, Hereditary Nonpolyposis, Type 6

  • Hereditary Non-Polyposis Colorectal Cancer 6

  • Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6

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

Aortic Aneurysm, Familial Abdominal, 1
  • Abdominal Aortic Aneurysm

  • Aortic Aneurysm, Familial Abdominal 1

  • Aneurysm, Abdominal Aortic

  • AAA

  • Aortic Aneurysm, Abdominal

  • AAA1

  • Aortic Aneurysm, Familial Abdominal

  • Aortic Aneurysm Abdominal

  • Abdominal Aortic Aneurysms

  • Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

  • Abdomen Aneurysm

  • Abdominal Aorta Aneurysm

  • Aneurysm Of Abdominal Aorta

  • Aortic Abdomen Aneurysm

  • Aaa - [Abdominal Aortic Aneurysm]

  • Abdominal Aneurysm

  • Abdominal Aorta Aneurysm Rupture

  • Abdominal Aorta Aneurysm Ruptured

  • Abdominal Aortic Aneurysm Which Has Ruptured

  • Ruptured Aaa

  • Abdomen Aorta Aneurysm Ruptured

  • Abdomen Aorta Rupture

  • Abdomen Aortic Aneurysm Rupture

  • Abdomen Aneurysm Rupture

  • Abdomen Aortic Aneurysm Ruptured

  • Abdomen Aortic Rupture

  • Abdominal Aorta Rupture

  • Abdominal Aortic Rupture

  • Rupture Abdomen Aorta Aneurysm

  • Rupture Abdominal Aortic Aneurysm

  • Ruptured Abdomen Aneurysm

  • Ruptured Abdomen Aorta

  • Ruptured Abdomen Aortic

  • Ruptured Abdominal Aneurysm

  • Ruptured Abdominal Aorta

  • Ruptured Abdominal Aortic

  • Ruptured Aorta Abdominalis Aneurysm

  • False Abdomen Aorta Aneurysm Ruptured

  • False Abdominal Aortic Aneurysm Ruptured

  • False Abdominal Aorta Aneurysm Ruptured

  • False Abdomen Aortic Aneurysm Ruptured

Marfan Syndrome
  • MFS

  • Mfs1

  • Marfan'S Syndrome

  • Marfan Syndrome Type 1

  • Marfan Syndrome, Type I

  • Mass Phenotype

  • Contractural Arachnodactyly

  • Mass Syndrome

  • Octd

  • Overlap Connective Tissue Disease

  • Marfanoid Hypermobility Syndrome

  • Marfan Disease

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Intracranial Hypotension
Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Loeys-Dietz Syndrome 5
  • Rienhoff Syndrome

  • LDS5

  • Rnhf

  • Reinhoff Syndrome

  • Loeys-Dietz Syndrome, Type 5

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Familial Colorectal Cancer
  • Colorectal Cancer, Familial

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

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

Collagen Disease
  • Collagen Diseases

  • Collagen Disorder

Pfeiffer Syndrome
  • Infectious Mononucleosis

  • Acs5

  • Craniofacial-Skeletal-Dermatologic Dysplasia

  • Acs V

  • Noack Syndrome

  • Gammaherpesviral Mononucleosis

  • Acrocephalosyndactyly Type 5

  • Pfeiffer Syndrome Type 3

  • Acrocephalosyndactyly, Type V

  • Glandular Fever

  • Pfeiffer Type Acrocephalosyndactyly

  • Pfeiffer Syndrome Type 2

  • Acrocephalosyndactylia Type V

  • Filatov'S Disease

  • Monocytic Angina

  • Mononucleosis

  • Pfeiffer'S Disease

  • Acsv

  • Acrocephalosyndactyly, Type 5

  • Craniofacial-Skeletal-Dermatologic Syndrome

  • Pfeiffer Syndrome Type 1

  • Classic Pfeiffer Syndrome

  • PS

  • Pfeiffer Syndrome Variant

  • Dysplasia, Craniofacial-Skeletal-Dermatologic

  • Pfeiffer

  • Kissing Disease

  • Infectious Adenitis

  • Pfeiffer Disease

Gastrointestinal Carcinoma
  • Gastrointestinal Neoplasms

Laryngeal Squamous Cell Carcinoma
  • Epidermoid Carcinoma Of The Larynx

  • Squamous Cell Carcinoma Of Larynx

  • Squamous Cell Carcinoma Of The Larynx

  • Squamous Cell Carcinoma Of Head And Neck

Tricuspid Valve Prolapse
Peutz-Jeghers Syndrome
  • PJS

  • Polyposis, Hamartomatous Intestinal

  • Polyps-And-Spots Syndrome

  • Lentiginosis, Perioral

  • Periorificial Lentiginosis Syndrome

  • Hamartomatous Polyp

  • Colonic Hamartomatous Polyp

  • Gastric Peutz-Jeghers Polyp

  • Peutz Jeghers Colon Polyp

  • Peutz Jeghers Polyp

  • Peutz-Jeghers Polyp Of Small Intestine

  • Peutz-Jeghers Small Bowel Hamartoma

  • Peutz Jeghers Polyposis

  • Intestinal Polyposis-Cutaneous Pigmentation Syndrome

  • Peutz-Jeghers Polyposis

  • Polyposis, Intestinal, Ii

  • Hamartomatous Intestinal Polyposis

  • Intestinal Hamartomatous Polyposis

  • Peutz-Jeghers Polyp

  • Peutz-Jeghers Polyp Of The Stomach

  • Peutz Jehgers Polyp

  • Peutz-Jeghers Polyps Of Small Bowel

Sertoli Cell Tumor
  • Tubular Androblastoma

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Familial Adenomatous Polyposis
  • Adenomatous Polyposis Coli

  • Fap

  • Familial Multiple Polyposis Syndrome

  • Adenomatous Polyposis Of The Colon

  • Familial Intestinal Polyposis

  • Familial Polyposis Coli

  • Fpc

  • Familial Adenomatous Polyposis Of The Colon

  • Familial Multiple Polyposis

  • Familial Polyposis Of The Colon

  • Hereditary Polyposis Coli

  • Polyposis, Adenomatous Intestinal

  • Adenomatous Familial Polyposis

  • Adenomatous Familial Polyposis Syndrome

  • Myh-Associated Polyposis

  • Colorectal Adenomatous Polyposis

  • Adenomatous Polyposis, Familial

  • Mutyh-Associate Polyposis

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Carcinoma Of Pancreas

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Cancer Of The Pancreas

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Cutis Laxa, Autosomal Dominant 1
  • Cutis Laxa, Autosomal Dominant

  • Autosomal Dominant Cutis Laxa

  • ADCL1

  • Adcl

  • Autosomal Dominant Cutis Laxa 1

  • Cutis Laxa, Autosomal Dominant, 1

  • Cutis Laxa, Autosomal Dominant, Type 1

Contractural Arachnodactyly, Congenital
  • Congenital Contractural Arachnodactyly

  • Beals Syndrome

  • CCA

  • Beals-Hecht Syndrome

  • Distal Arthrogryposis Type 9

  • Arthrogryposis, Distal, Type 9

  • Da9

  • Arachnodactyly, Contractural Beals Type

  • Contractures, Multiple With Arachnodactyly

  • Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

  • Arthrogyroposis, Distal, Type 9

  • Distal Arthrogyropsis Type 9

  • Cca Syndrome

  • Arachnodactyly

Loeys-Dietz Syndrome 2
  • LDS2

  • Aat3

  • Marfan Syndrome Type 2

  • Aortic Aneurysm, Familial Thoracic 3

  • Marfan Syndrome Type Ii

  • Loeys-Dietz Syndrome Type 2

  • Mfs2

  • Marfan Syndrome, Type Ii, Formerly

  • Familial Throacic Aortic Aneurysm 3

  • Familial Aortic Aneurysm Thoracic Type 3

  • Taad2

  • Thoracic Aortic Aneurysms And Dissection 2

  • Aneurysm, Aortic, Thoracic, Familial, Type 3

  • Loeys-Dietz Syndrome, Type 2

Ectopia Lentis 1, Isolated, Autosomal Dominant
  • ECTOL1

  • Ectopia Lentis, Familial

  • Autosomal Dominant Isolated Ectopia Lentis 1

Cleft Soft Palate
  • Cleft Velum

  • Cleft Velum Palatinum

  • Soft Cleft Palate

  • Soft Palate Perforation

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

Sezary'S Disease
  • Sezary Syndrome

  • Sézary Syndrome

  • Sezary'S Lymphoma

  • Sezary Disease

  • Sezary Erythroderma

  • Sezary Lymphoma

Orofacial Cleft
  • Cleft, Orofacial

Adenocarcinoma
  • Adenocarcinomas

  • Adenoacanthoma Of Unspecified Site

  • Adenocarcinoid Of Unspecified Site

  • Adenocarcinoid Tumour Of Unspecified Site

  • Adenocarcinoma And Carcinoid Combined Of Unspecified Site

  • Adenocarcinoma Nos

Colonic Benign Neoplasm
  • Colon Neoplasm

  • Colonic Mass

  • Colonic Tumor

  • Neoplasm Of Colon

  • Neoplasm Of The Colon

  • Colonic Neoplasms

  • Colon Cancer

  • Colon Carcinoma Nos

  • Colonic Cancer

  • Metastatic Colon Cancer Nos

Biliary Tract Cancer
Interstitial Lung Disease 2
  • Idiopathic Pulmonary Fibrosis

  • Ipf

  • Fibrocystic Pulmonary Dysplasia

  • Pulmonary Fibrosis, Idiopathic

  • Pulmonary Fibrosis, Idiopathic, Susceptibility To

  • ILD2

  • Idiopathic Pulmonary Fibrosis, Familial

  • Fibrosing Alveolitis, Cryptogenic

  • Uip

  • Cryptogenic Fibrosing Alveolitis

  • Fibrosing Alveolitis

  • Interstitial Pneumonitis, Usual

  • Familial Idiopathic Pulmonary Fibrosis

  • Idiopathic Fibrosing Alveolitis, Chronic Form

  • Usual Interstitial Pneumonia

  • Fibrosing Alveolitis Cryptogenic

  • Hamman-Rich Disease

  • Idiopathic Pulmonary Fibrosis Familial

  • Interstitial Pneumonitis Usual

  • Fibrosis Idiopathic Pulmonary

  • Fibrosis, Pulmonary, Idiopathic

  • Hamman-Rich Syndrome

  • Chronic Idiopathic Pulmonary Fibrosis

  • Acute Interstitial Pneumonia

  • Interstitial Pulmonary Fibrosis

  • Ipf - [Idiopathic Pulmonary Fibrosis]

  • Idiopathic Lung Fibrosis

  • Fibrosing Lung Disease

  • Pulmonary Fibrosis Nos

  • Fibrosing Pneumonitis

Arterial Tortuosity Syndrome
  • Arterial Tortuosity

  • Ats

  • ATORS

  • Tortuosity, Arterial, Syndrome

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

Diffuse Gastric Cancer
  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma

Aortic Dissection
Aortic Aneurysm
  • Aortic Rupture

  • Thoracoabdominal Aortic Aneurysm, Ruptured

  • Ruptured Aortic Aneurysm

  • Aortic Aneurysms

  • Aortic Aneurysm Without Mention Of Rupture Nos

  • Ruptured Abdominal Aortic Aneurysm

  • Aortic Aneurysm, Ruptured

  • Ruptured Thoracic Aortic Aneurysm

Loeys-Dietz Syndrome
  • Loeys-Dietz Aortic Aneurysm Syndrome

  • Lds

  • Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

  • Furlong Syndrome

Aortic Valve Insufficiency
  • Aortic Regurgitation

  • Rheumatic Aortic Regurgitation

  • Aortic Insufficiency

  • Rheumatic Aortic Insufficiency

  • Rheumatic Aortic Valve Insufficiency

  • Aortic Incompetence

  • Corrigan'S Disease

  • Rheumatic Aortic Valve Regurgitation

  • Aortic Valve Incompetency

  • Ai - [Aortic Incompetence]

  • Incompetent Aortic Valve

  • Ar - [Aortic Regurgitation]

  • Calcific Aortic Valve Regurgitation

  • Myxomatous Aortic Valve Regurgitation

  • Annular Incompetency Of Aortic Valve

  • Austin Flint Murmur

  • Flint Murmur

  • Rheumatic Aortic Incompetence

  • Rheumatic Ai - [Aortic Insufficiency]

Scoliosis
Esophagus Squamous Cell Carcinoma
  • Esophageal Squamous Cell Carcinoma

  • Oesophagus Squamous Cell Carcinoma

  • Scc Of Esophagus

  • Scc Of Oesophagus

  • Squamous Cell Carcinoma Of The Esophagus

  • Escc

  • Esophageal Epidermoid Carcinoma

  • Squamous Cell Esophageal Cancer

  • Squamous Cell Carcinoma Of Esophagus

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

Aortic Disease
  • Aortic Diseases

  • Aortic Disorder

  • Disorder Of The Aorta

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

Camurati-Engelmann Disease
  • Progressive Diaphyseal Dysplasia

  • Ced

  • Engelmann Disease

  • Diaphyseal Dysplasia 1, Progressive

  • Pdd

  • Diaphyseal Dysplasia

  • Dpd1

  • Camurati-Engelmann Syndrome

  • CAEND

  • Engelman'S Disease

  • Diaphyseal Hyperostosis

  • Diaphyseal Osteosclerosis

Lung Cancer Susceptibility 3
  • Lung Adenocarcinoma

  • Adenocarcinoma Of Lung

  • LNCR3

  • Adenocarcinoma Of Lung, Susceptibility To

  • Bronchogenic Lung Adenocarcinoma

  • Nonsmall Cell Adenocarcinoma

  • Adenocarcinoma Lung

  • Lung Adenocarcinomas

  • Non-Small Cell Adenocarcinoma

Orthostatic Intolerance
  • Mitral Valve Prolapse

  • Neurocirculatory Asthenia

  • Mitral Valve Prolapse Syndrome

  • Irritable Heart

  • Systolic Click-Murmur Syndrome

  • Soldiers Heart

  • Cardiovascular Malfunction Arising From Mental Factors

  • Cardiovascular Neurosis

  • Da Costa'S Syndrome

  • Krishaber'S Disease

  • Barlow'S Syndrome

  • Floppy Mitral Valve

  • Mitral Leaflet Syndrome

  • Myxomatous Mitral Valve Prolapse

  • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orthostatic Intolerance Due To Net Deficiency

  • Pots Due To Net Deficiency

  • OI

  • Intolerance, Orthostatic

  • Mitral Valve Prolapse, Familial, X-Linked

  • Ballooning Mitral Valve

  • Barlow Syndrome

  • Flail Mitral Leaflet

  • Myxomatous Mitral Valve

  • Mitral Valve Prolapse-Click Syndrome

  • Prolapsing Mitral Valve Leaflet Syndrome

  • Billowing Mitral Valve Leaflet

  • Posterior Mitral Leaflet Deformity

  • Ballooning Posterior Leaflet Syndrome

  • Blue Valve Syndrome

  • Floppy Mitral Valve Syndrome

  • Mitral Valvular Prolapse

  • Systolic Click Syndrome

Hereditary Hemorrhagic Telangiectasia
  • Rendu-Osler-Weber Disease

  • Hht

  • Osler-Weber-Rendu Disease

  • Telangiectasia, Hereditary Hemorrhagic

  • Osler Hemorrhagic Telangiectasia Syndrome

  • Orw Disease

  • Osler Weber Rendu Syndrome

  • Osler-Rendu-Weber Disease

  • Osler-Weber-Rendu Syndrome

  • Rendu-Osler Disease

  • Telangiectasia Hereditary Hemorrhagic

  • Telangiectasia Hemorrhagic, Hereditary

  • Hht - [Hereditary Haemorrhagic Telangiectasia]

  • Osler Haemorrhagic Telangiectasia Syndrome

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

Autoimmune Cholangitis
  • Autoimmune Cholangiopathy

Subclavian Artery Aneurysm
  • Aneurysm Of Subclavian Artery

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
Bos taurus TGFBR2 VGNC VGNC:35805
Canis familiaris TGFBR2 VGNC VGNC:47312
Mus musculus TGFBR2 MGD MGI:98729
Macaca mulatta TGFBR2 VGNC VGNC:78338
Felis catus TGFBR2 VGNC VGNC:66136
Rattus norvegicus TGFBR2 RGD RGD:69651
Others TGFBR2 NCBI