SMAD4 - SMAD family member 4 Gene

Also Known as JIP; DPC4; MADH4; MYHRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4089

About SMAD4

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:51,030,213-51,085,042 (from NCBI)

This gene has 24 transcripts (splice variants), 282 orthologues, 7 paralogues and is associated with 149 phenotypes. Ubiquitous expression in thyroid (RPKM 12.0), endometrium (RPKM 10.8) and 25 other tissues.

Summary

This gene encodes a member of the Smad Family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with Other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasing blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic Cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, May 2022]

SMAD4 Products (4)

mRNA	Protein	Name
NM_001407041.1	NP_001393970.1	mothers against decapentaplegic homolog 4 isoform a
NM_001407042.1	NP_001393971.1	mothers against decapentaplegic homolog 4 isoform a
NM_001407043.1	NP_001393972.1	mothers against decapentaplegic homolog 4 isoform b
NM_005359.6	NP_005350.1	mothers against decapentaplegic homolog 4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to DNA binding	IDA IDA: Inferred from direct assay	9389648	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9389648	GOA
contributes to DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	17438144	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	10823886	GOA
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	9256479	GOA
enables R-SMAD binding	IPI IPI: Inferred from physical interaction	8774881	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9389648	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	9111321	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9389648	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	8774881	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10823886	GOA
enables sulfate binding	IMP IMP: Inferred from mutant phenotype	10647180	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	17438144	GOA
enables transcription coactivator binding	IPI IPI: Inferred from physical interaction	16777850	GOA
enables transcription corepressor binding	IPI IPI: Inferred from physical interaction	14612439	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	8637600	GOA
involved in BMP signaling pathway	IGI IGI: Inferred from genetic interaction	22821565	GOA
involved in BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	19366699	GOA
involved in DNA-templated transcription	IDA IDA: Inferred from direct assay	11779505	GOA
involved in SMAD protein signal transduction	IDA IDA: Inferred from direct assay	9311995	GOA
involved in SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	23221074	GOA
involved in cellular response to transforming growth factor beta stimulus	IMP IMP: Inferred from mutant phenotype	23221074	GOA
involved in epithelial cell migration	IMP IMP: Inferred from mutant phenotype	30741461	GOA
involved in epithelial to mesenchymal transition	IGI IGI: Inferred from genetic interaction	23221074	GOA
involved in epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	30741461	GOA
involved in extrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	22821565	GOA
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	22316667	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	8774881	GOA
acts upstream of or within negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	23538390	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	8774881	GOA
involved in neuron fate specification	IMP IMP: Inferred from mutant phenotype	22357933	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	8774881	GOA
involved in positive regulation of extracellular matrix assembly	IMP IMP: Inferred from mutant phenotype	26747772	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	26747772	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9389648	GOA
involved in positive regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	19328798	GOA
involved in regulation of transforming growth factor beta2 production	IMP IMP: Inferred from mutant phenotype	12411310	GOA
involved in response to hypoxia	IMP IMP: Inferred from mutant phenotype	12411310	GOA
involved in response to transforming growth factor beta	IDA IDA: Inferred from direct assay	9707553	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	9311995	GOA
involved in transforming growth factor beta receptor signaling pathway	IGI IGI: Inferred from genetic interaction	22821565	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	8774881	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SMAD protein complex	IDA IDA: Inferred from direct assay	18832382	GOA
part of SMAD protein complex	IMP IMP: Inferred from mutant phenotype	10647180	GOA
part of activin responsive factor complex	IDA IDA: Inferred from direct assay	9389648	GOA
located in chromatin	IDA IDA: Inferred from direct assay	21828274	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9311995	GOA
part of heteromeric SMAD protein complex	IPI IPI: Inferred from physical interaction	11779505	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9311995	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	17438144	GOA
part of transcription regulator complex	IPI IPI: Inferred from physical interaction	12374795	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

SMAD4 Protein Structure

MH1

MH2

0
100
200
300
400
500
552 a.a.

Protein Preferred Names	Protein Names
mothers against decapentaplegic homolog 4	MAD homolog 4

SMAD4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMAD4	Q13485	NFKBID	Homo sapiens	Q8NI38	Validated Y2H	32296183
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	Y2H	21988832
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	PLA	22442258
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	18511908
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	21532621
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	19135894
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	TAP	18729074
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	TAP	25609649
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	21297662
Intra	SMAD4	Q13485	SMAD2	Homo sapiens	Q15796	X-Ray Diffraction	15350224
Intra	SMAD4	Q13485	ZIC1	Homo sapiens	Q15915	Validated Y2H	32296183
Intra	SMAD4	Q13485	SMAD1	Homo sapiens	Q15797	GMS	11779505
Intra	SMAD4	Q13485	SMAD1	Homo sapiens	Q15797	Validated Y2H	32296183
Intra	SMAD4	Q13485	SMAD1	Homo sapiens	Q15797	Anti Bait CoIP	17183365
Intra	SMAD4	Q13485	FOXO3	Homo sapiens	O43524	Anti Tag CoIP	21532621
Intra	SMAD4	Q13485	FOXO3	Homo sapiens	O43524	Anti Bait CoIP	21532621
Intra	SMAD4	Q13485	FOXO3	Homo sapiens	O43524	Anti Bait CoIP	15084259
Intra	SMAD4	Q13485	DLX4	Homo sapiens	Q92988	Anti Tag CoIP	21297662
Intra	SMAD4	Q13485	DLX4	Homo sapiens	Q92988	Anti Bait CoIP	21297662
Cross	SMAD4	Q13485	Usp9x	Mus musculus	P70398	Anti Bait CoIP	19135894
Cross	SMAD4	Q13485	Usp9x	Mus musculus	P70398	Enzymatic Study	19135894
Intra	SMAD4	Q13485	NR2F2	Homo sapiens	P24468	Anti Tag CoIP	23201680
Intra	SMAD4	Q13485	NR2F2	Homo sapiens	P24468	Pull Down	23201680
Intra	SMAD4	Q13485	LMO4	Homo sapiens	P61968	Y2H Array	25416956
Intra	SMAD4	Q13485	GATA2	Homo sapiens	P23769	Y2H Array	21988832
Intra	SMAD4	Q13485	SKIL	Homo sapiens	P12757	Anti Tag CoIP	33961781
Intra	SMAD4	Q13485	SKIL	Homo sapiens	P12757	Y2H	15231748
Intra	SMAD4	Q13485	SKIL	Homo sapiens	P12757	TAP	25609649
Intra	SMAD4	Q13485	USP9X	Homo sapiens	Q93008	Anti Bait CoIP	19135894
Intra	SMAD4	Q13485	BTRC	Homo sapiens	Q9Y297	Anti Tag CoIP	16865698
Intra	SMAD4	Q13485	BTRC	Homo sapiens	Q9Y297	Anti Bait CoIP	16865698
Intra	SMAD4	Q13485	DACH1	Homo sapiens	Q9UI36	Pull Down	14525983
Intra	SMAD4	Q13485	DACH1	Homo sapiens	Q9UI36	CoIP	14525983
Intra	SMAD4	Q13485	SKI	Homo sapiens	P12755	Anti Tag CoIP	33961781
Intra	SMAD4	Q13485	SKI	Homo sapiens	P12755	TAP	25609649
Intra	SMAD4	Q13485	SKI	Homo sapiens	P12755	CoIP	14525983
Intra	SMAD4	Q13485	SKI	Homo sapiens	P12755	X-Ray Diffraction	12419246
Intra	SMAD4	Q13485	NLK	Homo sapiens	Q9UBE8	Y2H	21988832
Intra	SMAD4	Q13485	NLK	Homo sapiens	Q9UBE8	Pull Down	21988832
Intra	SMAD4	Q13485	RASSF5	Homo sapiens	Q8WWW0	Y2H Array	25416956
Intra	SMAD4	Q13485	RASSF5	Homo sapiens	Q8WWW0	Y2H Prey Pooling	25416956
Intra	SMAD4	Q13485	DCP1A	Homo sapiens	Q9NPI6	TAP	25609649
Intra	SMAD4	Q13485	DCP1A	Homo sapiens	Q9NPI6	Validated Y2H	27107012
Intra	SMAD4	Q13485	DCP1A	Homo sapiens	Q9NPI6	Y2H Array	31467278
Intra	SMAD4	Q13485	FOXO4	Homo sapiens	P98177	Anti Bait CoIP	15084259
Intra	SMAD4	Q13485	SMAD9	Homo sapiens	O15198	Y2H Pooling	16189514
Intra	SMAD4	Q13485	SMAD9	Homo sapiens	O15198	TAP	25609649
Intra	SMAD4	Q13485	UBE2I	Homo sapiens	P63279	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMAD4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71324	SMAD4 Protein, Human (His)	Q13485 (M1-D552)	≥ 80%, as determined by reducing SDS-PAGE.

SMAD4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80326	Smad4 Antibody (YA074)	WB, IHC-P, ICC/IF, FC, IF-Tissue	Human, Mouse, Rat
HY-P84544	Smad4 Antibody (YA4241)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse
HY-P84544A	Smad4 Antibody (YA4241)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse
HY-P85369	Smad4 Antibody (YA5061)	WB; IHC-P; IHC-F; IF-Tissue	Human, Mouse, Rat
HY-P86352	Smad4 Antibody (YA6044)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myhre Syndrome	Laryngotracheal Stenosis, Arthropathy, Prognathism, And Short Stature Laps Syndrome MYHRS Growth-Mental Deficiency Syndrome Of Myhre Growth Mental Deficiency Syndrome Of Myhre Laryngotracheal Stenosis, Arthropathy, Prognathism, Short Stature Syndrome Myhre-Laps Syndrome Facial Dysmorphism - Intellectual Deficit - Short Stature - Hearing Loss Facial Dysmorphism-Intellectual Disability-Short Stature-Deafness Syndrome Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome
Juvenile Polyposis Syndrome	JPS Juvenile Intestinal Polyposis Jip Pji Juvenile Gastrointestinal Polyposis Juvenile Polyposis Polyposis, Juvenile Intestinal Polyposis, Familial, Of Entire Gastrointestinal Tract Polyposis Familial Of Entire Gastrointestinal Tract Polyposis Juvenile Intestinal Polyposis Syndrome, Juvenile
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome JPHT Jp/Hht Syndrome Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia Jps/Hht Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation Jp-Hht JP/HHT Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer 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 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
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
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
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
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
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial 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
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Pancreatic Adenocarcinoma	Adenocarcinoma Of The Pancreas Adenocarcinoma Of 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
Heritable Thoracic Aortic Disease
Biliary Tract Cancer	Malignant Tumour Of Biliary Tract Biliary Tract Neoplasms Biliary Tract Neoplasm
Pancreatic Ductal Carcinoma	Carcinoma, Pancreatic Ductal Malignant Neoplasm Of Duct Of Wirsung Pancreatic Duct Cancer Carcinoma Pancreatic Ductal
Bile Duct Cancer	Bile Duct Carcinoma Extrahepatic Bile Duct Carcinoma Carcinoma Of Extrahepatic Bile Duct Extrahepatic Bile Duct Cancer Bile Duct Neoplasms Bile Duct Tumor Ca Extrahepatic Bile Ducts Malignant Neoplasm Of The Extrahepatic Bile Duct Bile Duct Extrahepatic Carcinoma Malignant Tumor Of Extrahepatic Bile Duct
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Clear Cell Adenocarcinoma	Mesonephroma Water-Clear Cell Adenocarcinoma Adenocarcinoma, Clear Cell Malignant Mesonephroma Mesonephroid Clear Cell Carcinoma Mesonephroma, Malignant Water-Clear Cell Carcinoma Wolffian Duct Neoplasm Adenocarcinoma Clear Cell Mesonephric Tumor
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Acinar Cell Carcinoma	Acinic Cell Carcinoma Acinic Cell Tumor Carcinoma Acinar Cell Carcinoma, Acinar Cell Acinar Cell Tumor
Rectum Adenocarcinoma	Rectal Adenocarcinoma Adenocarcinoma Of Rectum
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Squamous Cell Skin Cancer Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Cervical Cancer	Cervical Cancer, Somatic Neoplasm Of Uterine Cervix Cervix Cancer Uterine Cervical Neoplasm Cervical Neoplasm Cervix Uteri Cancer Tumor Of The Cervix Uteri CERCA Uterine Cervical Cancer Neoplasms Cervical Uterine Cervical Neoplasms Cervical Cancers Cancer, Cervical, Somatic Malignant Tumor Of Cervix Cervix Carcinoma
Familial Adenomatous Polyposis	Adenomatous Polyposis Coli Fap Familial Polyposis Coli Familial Multiple Polyposis Syndrome Adenomatous Polyposis Of The Colon Familial Intestinal Polyposis 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
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
Colitis
Telangiectasis	Telangiectasia
Peutz-Jeghers Syndrome	PJS Polyposis, Hamartomatous Intestinal Polyps-And-Spots Syndrome Lentiginosis, Perioral Periorificial Lentiginosis Syndrome Hamartomatous Intestinal Polyposis 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 Intestinal Hamartomatous Polyposis Peutz-Jeghers Polyp Peutz-Jeghers Polyp Of The Stomach Peutz Jehgers Polyp Peutz-Jeghers Polyps Of Small Bowel
Squamous Cell Carcinoma, Head And Neck	Squamous Cell Carcinoma Of The Head And Neck HNSCC Head And Neck Squamous Cell Carcinoma 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 Carcinoma, Squamous Cell, Head And Neck Salivary Gland Squamous Cell Carcinoma Cancer Of Head And Neck Squamous Cell Carcinoma Of Oropharynx Nos
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
Small Intestine Cancer	Small Intestine Carcinoma Cancer Of The Small Bowel Small Bowel Cancer Small Intestinal Carcinoma Malignant Neoplasms Of The Small Intestine Small Bowel Tumors Malignant Tumor Of Small Intestine Neoplasm Of Small Intestine
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Endocervical Adenocarcinoma	Endocervical Carcinoma
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast 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
Ampulla Of Vater Cancer	Ampulla Of Vater Carcinoma Ampullary Carcinoma Malignant Tumour Of Ampulla Of Vater Carcinoma Of Ampulla Of Vater Carcinoma Of The Ampulla Of Vater Ampulloma
Mucinous Cystadenocarcinoma	Cystadenocarcinoma, Mucinous Pseudomucinous Cystadenocarcinoma Cystadenocarcinoma Mucinous
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer 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
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
Ulcerative Colitis	Colitis Gravis Left Sided Ulcerative Colitis Left-Sided Ulcerative Colitis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Uc Colitis Ulcerative Colitis, Ulcerative Chronic Left-Sided Ulcerative Colitis Uc - [Ulcerative Colitis] Chronic Ulcerative Enteritis Mucosal Proctocolitis Ulcerative Mucosal Proctocolitis Left Hemicolitis
Barrett Esophagus	Barrett'S Esophagus Barrett Esophagus/Esophageal Adenocarcinoma Barrett Metaplasia Barrett'S Ulcer Of Esophagus Ulcerative Esophagitis Barrett'S Esophagus With Esophagitis Barrett'S Oesophagus Barretts Syndrome Barrett Syndrome BE Peptic Ulcer Of Esophagus Adenocarcinoma Of Esophagus
Breast Ductal Carcinoma	Ductal Breast Carcinoma Duct Carcinoma Carcinoma, Ductal Mammary Ductal Carcinoma Ductal Carcinoma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Vipoma	Wdha Syndrome Pancreatic Cholera Pancreatic Vipoma Verner-Morrison Syndrome Diarrheogenic Islet Cell Tumor Vip-Secreting Tumor Malignant Vasoactive Intestinal Peptide-Secreting Tumor Vasoactive Intestinal Peptide-Secreting Tumor Vip- Secreting Tumor Vipoma, Malignant Vipoma Syndrome Watery Diarrhea Syndrome Watery Diarrhea, Hypokalemia, And Achlorhydria Syndrome Vasoactive Intestinal Peptide Tumor Vasoactive Intestinal Peptide-Producing Tumor Watery Diarrhea-Hypokalemia-Achlorhydria Syndrome Malignant Vipoma
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 Carcinoma, Hepatocellular 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
Hereditary Mixed Polyposis Syndrome	Hmps
Pancreatoblastoma
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Pancreatitis	Mumps Pancreatitis
Anterior Dislocation Of Lens
Blepharophimosis
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach 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
Cervical Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Cervix Uteri Squamous Cell Carcinoma Of Cervix
Pancreatic Acinar Cell Adenocarcinoma	Pancreatic Acinar Cell Carcinoma Acinar Cell Adenocarcinoma Of The Pancreas
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Pancreas Disease	Abnormality Of The Pancreas Pancreatic Diseases
Rhabdomyosarcoma
Small Intestine Adenocarcinoma	Small Intestinal Adenocarcinoma Adenocarcinoma Of Small Intestine Adenocarcinoma Of The Small Bowel Adenocarcinoma Of Small Bowel Adenocarcinoma Of Small Instestine Adenocarcinoma Of The Small Instestine Small Bowel Adenocarcinoma Adenocarcinoma Of The Small Intestine
Autosomal Dominant Intellectual Developmental Disorder 19	Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Mental Retardation 19 Mrd19
Familial Adenomatous Polyposis 2	Mutyh-Related Attenuated Familial Adenomatous Polyposis FAP2 Colorectal Adenomatous Polyposis, Autosomal Recessive Adenomas, Multiple Colorectal Mutyh-Associated Polyposis Mutyh-Related Attenuated Familial Polyposis Coli Mutyh-Related Attenuated Fap Adenomas, Multiple Colorectal, Autosomal Recessive Mutyh-Related Afap Adenomas Multiple Colorectal Autosomal Recessive Colorectal Adenomatous Polyposis Autosomal Recessive Adenomatous Polyposis, Familial, Type 2
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
Appendix Adenocarcinoma	Cystadenocarcinoma Mucinous Adenocarcinoma Adenocarcinoma Of Appendix Appendiceal Adenocarcinoma Adenocarcinoma Of The Appendix Colonic Type Adenocarcinoma Nonmucinous Adenocarcinoma
Cardiovascular Organ Benign Neoplasm
Brachydactyly
Duodenum Cancer	Duodenal Cancer Duodenal Neoplasms Cancer Of Duodenum Duodenal Neoplasm Duodenal Carcinoma Cancer, Duodenal Malignant Neoplasm Of Duodenum
Appendix Disease	Disorder Of Appendix
Appendix Cancer	Appendiceal Neoplasms Cancer Of The Appendix Malignant Neoplasm Of Appendix Vermiformis Malignant Tumor Of Appendix Malignant Tumor Of The Appendix Malignant Neoplasm Of Appendix Carcinoma Of The Appendix
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Ampulla Of Vater Adenocarcinoma	Adenocarcinoma Of Ampulla Of Vater Ampullary Adenocarcinoma
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The 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 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
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
Duodenum Disease	Duodenal Diseases Duodenal Disease Duodenum Disorder
Duodenum Adenocarcinoma	Duodenal Adenocarcinoma
Colon Adenoma	Adenomatous Polyp Of Colon
Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis	ECTD14 Ectodermal Dysplasia 14 Ectn14
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
Hemochromatosis Type 2	Juvenile Hemochromatosis Juvenile Hereditary Hemochromatosis Hfe2 Jhh Hemochromatosis Juvenile Iron Overload Disease Juvenile Hemochromatosis, Juvenile Hemochromatosis, Type 2 Hemochromatosis Hemochromatosis, Type 1
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
Villous Adenoma	Adenoma Villous Adenoma, Villous
Malignant Exocrine Pancreas Neoplasm	Malignant Neoplasm Of The Exocrine Pancreas Malignant Tumor Of Exocrine Pancreas Malignant Tumour Of Exocrine Pancreas
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Colorectal Adenoma	Colorectal Adenomas Adenoma Of Large Intestine
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
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
Mucinous Adenocarcinoma	Mucin-Producing Adenocarcinoma Mucin-Secreting Adenocarcinoma Mucin-Secreting Carcinoma Mucous Carcinoma Pseudomyxoma Peritonei With Unknown Primary Site Adenocarcinoma, Mucinous
Diffuse Gastric And Lobular Breast Cancer Syndrome	Hereditary Diffuse Gastric Cancer HDGC LBC Familial Diffuse Gastric Cancer Fdgc Hereditary Diffuse Gastric Adenocarcinoma Breast Cancer, Lobular Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate DGLBC Gastric Cancer, Hereditary Diffuse Gastric Cancer, Familial Diffuse Breast Cancer, Lobular Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate E-Cadherin-Associated Hereditary Gastric Cancer Familial Diffuse Cancer Of Stomach Hereditary Diffuse Cancer Of Stomach Gastric Cancer Familial Diffuse Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate Cancer, Gastric, Hereditary Diffuse
Pulmonary Venoocclusive Disease	Pulmonary Veno-Occlusive Disease Obstructive Disease Of The Pulmonary Veins Pvod Isolated Pulmonary Venous Sclerosis Venous Form Of Primary Pulmonary Hypertension Pulmonary Venoocclusive Disease 1, Autosomal Dominant
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
Gastrointestinal System Benign Neoplasm
Ovarian Cystadenocarcinoma	Cystadenocarcinoma Of Ovary Cystadenocarcinoma Of The Ovary
Colorectal Adenocarcinoma	Adenocarcinoma Of Large Intestine
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
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
Pancreatic Ductal Adenocarcinoma	Ductal Adenocarcinoma Of The Pancreas
Ovarian Serous Cystadenocarcinoma	Serous Cystadenoma Cystadenoma Serous Cystadenoma, Serous
Baritosis	Deposition Of Barium In The Lungs Inhalation Of Barytes
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Severe Congenital Encephalopathy Due To Mecp2 Mutation Severe Neonatal-Onset Encephalopathy With Microcephaly Encephalopathy, Neonatal Severe Neonatal Severe Encephalopathy Due To Mecp2 Mutations Mecp2-Related Severe Neonatal Encephalopathy Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy Severe Neonatal Encephalopathy Due To Mecp2 Mutations ENS-MECP2 Encephalopathy, Neonatal, Severe
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
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
Cowden Syndrome 6	CWS6 Cowden Syndrome, Type 6
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip 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
Orofacial Cleft	Cleft, Orofacial

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149414	MY-673		98.60%	Unkown
HY-RS13395	SMAD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P11223	CMF9	Inhibitor	98.65%	Unkown
HY-179228	AN02		/	Unkown
HY-RS17346	Smad4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23800	Smad4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMAD4	MGD	MGI:894293
Canis familiaris	SMAD4	VGNC	VGNC:46521
Felis catus	SMAD4	VGNC	VGNC:68132
Rattus norvegicus	SMAD4	RGD	RGD:3033
Macaca mulatta	SMAD4	VGNC	VGNC:77812
Bos taurus	SMAD4	VGNC	VGNC:34977
Others	SMAD4	NCBI