1. Gene
  2. SMAD4 - SMAD family member 4 Gene

SMAD4 - SMAD family member 4 Gene

中文名称:SMAD 家族成员 4

种属: Homo sapiens

同用名: JIP; DPC4; MADH4; MYHRS

基因 ID: 4089 | 基因类型: protein coding

关于 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.

功能概要

该基因编码信号转导蛋白 Smad 家族的成员。 Smad 蛋白被跨膜丝氨酸-苏氨酸受体激酶磷酸化并激活,以响应转化生长因子 (TGF) -β 信号转导。该基因的产物与其他激活的 Smad 蛋白形成同源复合物和异源复合物,然后在细胞核中积累并调节靶基因的转录。这种蛋白质与 DNA 结合并识别称为 Smad 结合元件 (SBE) 的 8-bp 回文序列 (GTCTAGAC) 。该蛋白质充当肿瘤抑制因子并抑制上皮细胞增殖。它还可能通过减少血管生成和增加血管通透性而对肿瘤产生抑制作用。编码的蛋白质是骨形态发生蛋白信号通路的重要组成部分。 Smad 蛋白受翻译后修饰的复杂调控。该基因的突变或缺失已被证明会导致胰腺癌、幼年性息肉病综合征和遗传性出血性毛细血管扩张综合征。[RefSeq 提供,2022 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to DNA binding IDA
IDA: 通过直接分析推断
9389648 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
9389648 GOA
contributes to DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
17438144 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
10823886 GOA
enables I-SMAD binding IPI
IPI: 通过物理相互作用推断
9256479 GOA
enables R-SMAD binding IPI
IPI: 通过物理相互作用推断
8774881 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9389648 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
9111321 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9389648 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
8774881 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
10823886 GOA
enables sulfate binding IMP
IMP: 通过突变表型推断
10647180 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
17438144 GOA
enables transcription coactivator binding IPI
IPI: 通过物理相互作用推断
16777850 GOA
enables transcription corepressor binding IPI
IPI: 通过物理相互作用推断
14612439 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IDA
IDA: 通过直接分析推断
8637600 GOA
involved in BMP signaling pathway IGI
IGI: 通过遗传相互作用推断
22821565 GOA
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
19366699 GOA
involved in DNA-templated transcription IDA
IDA: 通过直接分析推断
11779505 GOA
involved in SMAD protein signal transduction IDA
IDA: 通过直接分析推断
9311995 GOA
involved in SMAD protein signal transduction IMP
IMP: 通过突变表型推断
23221074 GOA
involved in cellular response to transforming growth factor beta stimulus IMP
IMP: 通过突变表型推断
23221074 GOA
involved in epithelial cell migration IMP
IMP: 通过突变表型推断
30741461 GOA
involved in epithelial to mesenchymal transition IGI
IGI: 通过遗传相互作用推断
23221074 GOA
involved in epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
30741461 GOA
involved in extrinsic apoptotic signaling pathway IMP
IMP: 通过突变表型推断
22821565 GOA
involved in intracellular signal transduction IMP
IMP: 通过突变表型推断
22316667 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
8774881 GOA
acts upstream of or within negative regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
23538390 GOA
involved in negative regulation of cell growth IDA
IDA: 通过直接分析推断
8774881 GOA
involved in neuron fate specification IMP
IMP: 通过突变表型推断
22357933 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
8774881 GOA
involved in positive regulation of extracellular matrix assembly IMP
IMP: 通过突变表型推断
26747772 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
26747772 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9389648 GOA
involved in positive regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
19328798 GOA
involved in regulation of transforming growth factor beta2 production IMP
IMP: 通过突变表型推断
12411310 GOA
involved in response to hypoxia IMP
IMP: 通过突变表型推断
12411310 GOA
involved in response to transforming growth factor beta IDA
IDA: 通过直接分析推断
9707553 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
9311995 GOA
involved in transforming growth factor beta receptor signaling pathway IGI
IGI: 通过遗传相互作用推断
22821565 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: 通过突变表型推断
8774881 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SMAD protein complex IDA
IDA: 通过直接分析推断
18832382 GOA
part of SMAD protein complex IMP
IMP: 通过突变表型推断
10647180 GOA
part of activin responsive factor complex IDA
IDA: 通过直接分析推断
9389648 GOA
located in chromatin IDA
IDA: 通过直接分析推断
21828274 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
9311995 GOA
part of heteromeric SMAD protein complex IPI
IPI: 通过物理相互作用推断
11779505 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9311995 GOA
part of transcription regulator complex IDA
IDA: 通过直接分析推断
17438144 GOA
part of transcription regulator complex IPI
IPI: 通过物理相互作用推断
12374795 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SMAD4 蛋白结构

MH1

MH1: MH1 domain (37 - 137)

MH2

MH2: MH2 domain (319 - 531)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
蛋白主名 其他名称

mothers against decapentaplegic homolog 4

MAD homolog 4

SMAD4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SMAD4 Q13485 NFKBID Homo sapiens Q8NI38
Validated Y2H
32296183
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
Y2H
21988832
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
PLA
22442258
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
Anti Bait CoIP
18511908
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
Anti Bait CoIP
21532621
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
Anti Bait CoIP
19135894
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
TAP
18729074
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
TAP
25609649
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
Anti Bait CoIP
21297662
种属内
SMAD4 Q13485 SMAD2 Homo sapiens Q15796
X-Ray Diffraction
15350224
种属内
SMAD4 Q13485 ZIC1 Homo sapiens Q15915
Validated Y2H
32296183
种属内
SMAD4 Q13485 SMAD1 Homo sapiens Q15797
GMS
11779505
种属内
SMAD4 Q13485 SMAD1 Homo sapiens Q15797
Validated Y2H
32296183
种属内
SMAD4 Q13485 SMAD1 Homo sapiens Q15797
Anti Bait CoIP
17183365
种属内
SMAD4 Q13485 FOXO3 Homo sapiens O43524
Anti Tag CoIP
21532621
种属内
SMAD4 Q13485 FOXO3 Homo sapiens O43524
Anti Bait CoIP
21532621
种属内
SMAD4 Q13485 FOXO3 Homo sapiens O43524
Anti Bait CoIP
15084259
种属内
SMAD4 Q13485 DLX4 Homo sapiens Q92988
Anti Tag CoIP
21297662
种属内
SMAD4 Q13485 DLX4 Homo sapiens Q92988
Anti Bait CoIP
21297662
种属间
SMAD4 Q13485 Usp9x Mus musculus P70398
Anti Bait CoIP
19135894
种属间
SMAD4 Q13485 Usp9x Mus musculus P70398
Enzymatic Study
19135894
种属内
SMAD4 Q13485 NR2F2 Homo sapiens P24468
Anti Tag CoIP
23201680
种属内
SMAD4 Q13485 NR2F2 Homo sapiens P24468
Pull Down
23201680
种属内
SMAD4 Q13485 LMO4 Homo sapiens P61968
Y2H Array
25416956
种属内
SMAD4 Q13485 GATA2 Homo sapiens P23769
Y2H Array
21988832
种属内
SMAD4 Q13485 SKIL Homo sapiens P12757
Anti Tag CoIP
33961781
种属内
SMAD4 Q13485 SKIL Homo sapiens P12757
Y2H
15231748
种属内
SMAD4 Q13485 SKIL Homo sapiens P12757
TAP
25609649
种属内
SMAD4 Q13485 USP9X Homo sapiens Q93008
Anti Bait CoIP
19135894
种属内
SMAD4 Q13485 BTRC Homo sapiens Q9Y297
Anti Tag CoIP
16865698
种属内
SMAD4 Q13485 BTRC Homo sapiens Q9Y297
Anti Bait CoIP
16865698
种属内
SMAD4 Q13485 DACH1 Homo sapiens Q9UI36
Pull Down
14525983
种属内
SMAD4 Q13485 DACH1 Homo sapiens Q9UI36
CoIP
14525983
种属内
SMAD4 Q13485 SKI Homo sapiens P12755
Anti Tag CoIP
33961781
种属内
SMAD4 Q13485 SKI Homo sapiens P12755
TAP
25609649
种属内
SMAD4 Q13485 SKI Homo sapiens P12755
CoIP
14525983
种属内
SMAD4 Q13485 SKI Homo sapiens P12755
X-Ray Diffraction
12419246
种属内
SMAD4 Q13485 NLK Homo sapiens Q9UBE8
Y2H
21988832
种属内
SMAD4 Q13485 NLK Homo sapiens Q9UBE8
Pull Down
21988832
种属内
SMAD4 Q13485 RASSF5 Homo sapiens Q8WWW0
Y2H Array
25416956
种属内
SMAD4 Q13485 RASSF5 Homo sapiens Q8WWW0
Y2H Prey Pooling
25416956
种属内
SMAD4 Q13485 DCP1A Homo sapiens Q9NPI6
TAP
25609649
种属内
SMAD4 Q13485 DCP1A Homo sapiens Q9NPI6
Validated Y2H
27107012
种属内
SMAD4 Q13485 DCP1A Homo sapiens Q9NPI6
Y2H Array
31467278
种属内
SMAD4 Q13485 FOXO4 Homo sapiens P98177
Anti Bait CoIP
15084259
种属内
SMAD4 Q13485 SMAD9 Homo sapiens O15198
Y2H Pooling
16189514
种属内
SMAD4 Q13485 SMAD9 Homo sapiens O15198
TAP
25609649
种属内
SMAD4 Q13485 UBE2I Homo sapiens P63279
Y2H Pooling
16189514
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SMAD4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71324 SMAD4 Protein, Human (His) Q13485 (M1-D552) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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