1. Gene
  2. PMS2 - PMS1 homolog 2, mismatch repair system component Gene

PMS2 - PMS1 homolog 2, mismatch repair system component Gene

中文名称:PMS1 同系物 2,错配修复系统成分

种属: Homo sapiens

同用名: MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL

基因 ID: 5395 | 基因类型: protein coding

关于 PMS2

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,970,925-6,009,106 (from NCBI)

This gene has 71 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 97 phenotypes. Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是错配修复系统的关键组成部分,其功能是纠正 DNA 复制和同源重组过程中可能发生的 DNA 错配和小的插入和缺失。该蛋白质与 mutL 同系物 1 (MLH1) 基因的基因产物形成异二聚体,形成 MutL-α 异二聚体。 MutL-α 异二聚体具有核酸内切酶活性,该活性在 MutS-α 和 MutS-β 异二聚体识别错配和插入/缺失环后被激活,并且是去除错配 DNA 所必需的。在该基因编码的蛋白质的 C 末端发现了一个 DQHA (X) 2E (X) 4E 基序,它构成了核酸酶活性位点的一部分。该基因的突变与遗传性非息肉病性结直肠癌 (HNPCC;也称为 Lynch 综合征) 和 Turcot 综合征有关。[RefSeq 提供,2016 年 4 月]

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal Cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]

PMS2 基因产物(60)

mRNA Protein Name
NM_000535.7 NP_000526.2 mismatch repair endonuclease PMS2 isoform a
NM_001322003.2 NP_001308932.1 mismatch repair endonuclease PMS2 isoform b
NM_001322004.2 NP_001308933.1 mismatch repair endonuclease PMS2 isoform b
NM_001322005.2 NP_001308934.1 mismatch repair endonuclease PMS2 isoform b
NM_001322006.2 NP_001308935.1 mismatch repair endonuclease PMS2 isoform c
NM_001322007.2 NP_001308936.1 mismatch repair endonuclease PMS2 isoform d
NM_001322008.2 NP_001308937.1 mismatch repair endonuclease PMS2 isoform d
NM_001322009.2 NP_001308938.1 mismatch repair endonuclease PMS2 isoform e
NM_001322010.2 NP_001308939.1 mismatch repair endonuclease PMS2 isoform f
NM_001322011.2 NP_001308940.1 mismatch repair endonuclease PMS2 isoform g
NM_001322012.2 NP_001308941.1 mismatch repair endonuclease PMS2 isoform g
NM_001322013.2 NP_001308942.1 mismatch repair endonuclease PMS2 isoform h
NM_001322014.2 NP_001308943.1 mismatch repair endonuclease PMS2 isoform i
NM_001322015.2 NP_001308944.1 mismatch repair endonuclease PMS2 isoform j
NM_001406866.1 NP_001393795.1 mismatch repair endonuclease PMS2 isoform k
NM_001406868.1 NP_001393797.1 mismatch repair endonuclease PMS2 isoform l
NM_001406869.1 NP_001393798.1 mismatch repair endonuclease PMS2 isoform m
NM_001406870.1 NP_001393799.1 mismatch repair endonuclease PMS2 isoform n
NM_001406871.1 NP_001393800.1 mismatch repair endonuclease PMS2 isoform o
NM_001406872.1 NP_001393801.1 mismatch repair endonuclease PMS2 isoform p
NM_001406873.1 NP_001393802.1 mismatch repair endonuclease PMS2 isoform r
NM_001406874.1 NP_001393803.1 mismatch repair endonuclease PMS2 isoform q
NM_001406875.1 NP_001393804.1 mismatch repair endonuclease PMS2 isoform s
NM_001406876.1 NP_001393805.1 mismatch repair endonuclease PMS2 isoform t
NM_001406877.1 NP_001393806.1 mismatch repair endonuclease PMS2 isoform j
NM_001406878.1 NP_001393807.1 mismatch repair endonuclease PMS2 isoform j
NM_001406879.1 NP_001393808.1 mismatch repair endonuclease PMS2 isoform j
NM_001406880.1 NP_001393809.1 mismatch repair endonuclease PMS2 isoform j
NM_001406881.1 NP_001393810.1 mismatch repair endonuclease PMS2 isoform j
NM_001406882.1 NP_001393811.1 mismatch repair endonuclease PMS2 isoform j
NM_001406883.1 NP_001393812.1 mismatch repair endonuclease PMS2 isoform d
NM_001406884.1 NP_001393813.1 mismatch repair endonuclease PMS2 isoform u
NM_001406885.1 NP_001393814.1 mismatch repair endonuclease PMS2 isoform v
NM_001406886.1 NP_001393815.1 mismatch repair endonuclease PMS2 isoform w
NM_001406887.1 NP_001393816.1 mismatch repair endonuclease PMS2 isoform e
NM_001406888.1 NP_001393817.1 mismatch repair endonuclease PMS2 isoform e
NM_001406889.1 NP_001393818.1 mismatch repair endonuclease PMS2 isoform b
NM_001406890.1 NP_001393819.1 mismatch repair endonuclease PMS2 isoform b
NM_001406891.1 NP_001393820.1 mismatch repair endonuclease PMS2 isoform b
NM_001406892.1 NP_001393821.1 mismatch repair endonuclease PMS2 isoform b
NM_001406893.1 NP_001393822.1 mismatch repair endonuclease PMS2 isoform b
NM_001406894.1 NP_001393823.1 mismatch repair endonuclease PMS2 isoform b
NM_001406895.1 NP_001393824.1 mismatch repair endonuclease PMS2 isoform b
NM_001406896.1 NP_001393825.1 mismatch repair endonuclease PMS2 isoform b
NM_001406897.1 NP_001393826.1 mismatch repair endonuclease PMS2 isoform b
NM_001406898.1 NP_001393827.1 mismatch repair endonuclease PMS2 isoform b
NM_001406899.1 NP_001393828.1 mismatch repair endonuclease PMS2 isoform b
NM_001406900.1 NP_001393829.1 mismatch repair endonuclease PMS2 isoform y
NM_001406901.1 NP_001393830.1 mismatch repair endonuclease PMS2 isoform z
NM_001406902.1 NP_001393831.1 mismatch repair endonuclease PMS2 isoform z
NM_001406903.1 NP_001393832.1 mismatch repair endonuclease PMS2 isoform aa
NM_001406904.1 NP_001393833.1 mismatch repair endonuclease PMS2 isoform bb
NM_001406905.1 NP_001393834.1 mismatch repair endonuclease PMS2 isoform bb
NM_001406906.1 NP_001393835.1 mismatch repair endonuclease PMS2 isoform f
NM_001406907.1 NP_001393836.1 mismatch repair endonuclease PMS2 isoform f
NM_001406908.1 NP_001393837.1 mismatch repair endonuclease PMS2 isoform ff
NM_001406909.1 NP_001393838.1 mismatch repair endonuclease PMS2 isoform h
NM_001406910.1 NP_001393839.1 mismatch repair endonuclease PMS2 isoform cc
NM_001406911.1 NP_001393840.1 mismatch repair endonuclease PMS2 isoform dd
NM_001406912.1 NP_001393841.1 mismatch repair endonuclease PMS2 isoform ee
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
enables DNA binding IDA
IDA: 通过直接分析推断
10871409 GOA
contributes to MutSalpha complex binding IDA
IDA: 通过直接分析推断
16403449 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11292842 GOA
enables single base insertion or deletion binding IDA
IDA: 通过直接分析推断
10871409 GOA
contributes to single-stranded DNA binding IDA
IDA: 通过直接分析推断
11809883 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mismatch repair IDA
IDA: 通过直接分析推断
10871409 GOA
involved in mismatch repair IMP
IMP: 通过突变表型推断
9618520 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
23709753 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

PMS2 蛋白结构

HATPase_c_3

HATPase_c_3: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (34 - 139)

DNA_mis_repair

DNA_mis_repair: DNA mismatch repair protein, C-terminal domain (264 - 359)

MutL_C

MutL_C: MutL C terminal dimerisation domain (678 - 822)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 862 a.a.
蛋白主名 其他名称

mismatch repair endonuclease PMS2

DNA mismatch repair protein PMS2

PMS2 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
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Y2H Array
31515488
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Y2H Array
12810663
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Pull Down
11292842
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Anti Tag CoIP
26496610
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Y2H
25502805
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Y2H
20706999
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Anti Bait CoIP
20533529
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Pull Down
11793469
Intra PMS2 P54278 MLH1 Homo sapiens P40692
Pull Down
12810663
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Mismatch Repair Cancer Syndrome 4

MMRCS4

Colorectal Cancer, Hereditary Nonpolyposis, Type 4

HNPCC4

Hereditary Nonpolyposis Colorectal Cancer Type 4

Hereditary Non-Polyposis Colorectal Cancer 4

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4

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

Mismatch Repair Cancer Syndrome 1

Turcot Syndrome

Constitutional Mismatch Repair Deficiency Syndrome

Mismatch Repair Deficiency

Mmr Deficiency

MMRCS1

Cmmrds

Childhood Cancer Syndrome

Brain Tumor-Polyposis Syndrome 1

Btps1

Btp1 Syndrome

Mismatch Repair Cancer Syndrome

Childhood Cancer

Brain Tumor-Polyposis Syndrome

Cns Tumors With Familial Polyposis Of The Colon

Glioma-Polyposis Syndrome

Mmrcs

Malignant Tumors Of The Central Nervous System Associated With Familial Polyposis Of The Colon

Biallelic Mismatch Repair Deficiency Syndrome

Bmmrd

Cmmr-D Syndrome

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Lynch Syndrome I

Lynch Syndrome 1

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

HNPCC1

Fcc1

Lynch Syndrome Ii

Colon Cancer, Familial Nonpolyposis, Type 1

Coca1

Familial Nonpolyposis Colon Cancer Type 1

Hereditary Nonpolyposis Colorectal Cancer Type 1

Hereditary Non-Polyposis Colorectal Cancer 1

Hereditary Non-Polyposis Colorectal Cancer 3

Hnpcc3

Lynch Cancer Family Syndrome

Lynch Syndrome

Lynch Syndrome Type I

Lynch Syndrome Type Ii

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1

Hereditary Nonpolyposis Colorectal Cancer

Colorectal Cancer, Hereditary Nonpolyposis, Type 3

Hereditary Non-Polyposis Colon Cancer Type 2

Tumor Predisposition Syndrome 1

TPDS1

Tumor Predisposition Syndrome

TPDS

Rhabdomyosarcoma
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

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

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

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

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

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

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Pituitary Cancer

Pituitary Carcinoma

Malignant Pituitary Neoplasm

Malignant Tumor Of Pituitary Gland

Neoplasm Of Pituitary Gland

Pituitary Gland Cancer

Pituitary Gland Neoplasm

Pituitary Neoplasm

Carcinoma Of The Pituitary Gland

Neoplasm Of The Pituitary Gland

Pituitary Neoplasms

Malignant Neoplasm Of Pituitary Gland

Mismatch Repair Cancer Syndrome

Turcot Syndrome

Brain Tumor-Polyposis Syndrome 1

Btp1 Syndrome

Btps1

Childhood Cancer Syndrome

Cmmr-D Syndrome

Cmmrds

Constitutional Mismatch Repair Deficiency Syndrome

Mmr Deficiency

Cancer Syndrome, Mismatch Repair

Malignant Childhood Neoplasm

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

Muir-Torre Syndrome

MRTES

Keratoacanthoma

Muir-Torré Syndrome

Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

Multiple Keratoacanthoma, Muir-Torre Type

Mts

Torre-Muir Syndrome

Neurofibromatosis

Neurofibromatoses

Acoustic Neurofibromatosis

Central Neurofibromatosis

Peripheral Neurofibromatosis

Recklinghausen'S Neurofibromatosis

Von Reklinghausen Disease

Neurofibromatosis Type 1

Adenosquamous Colon Carcinoma

Adenosquamous Carcinoma Of Colon

Colonic Adenosquamous Carcinoma

Colon Adenosquamous Carcinoma

Sebaceous Adenocarcinoma

Sebaceous Carcinoma

Adenocarcinoma Of The Sebaceous Gland

Malignant Neoplasm Of Sebaceous Gland

Malignant Sebaceous Tumor

Adenocarcinoma, Sebaceous

Malignant Sebaceous Neoplasm

Sebaceous Gland Neoplasms

Duodenum Adenocarcinoma

Duodenal Adenocarcinoma

Extrahepatic Bile Duct Adenoma

Adenoma Of Extrahepatic Bile Duct

Adenoma Of The Extrahepatic Bile Duct

Sebaceous Gland Neoplasm

Sebaceous Gland Neoplasms

Sebaceous Neoplasm

Spindle Cell Intraocular Melanoma

Uveal Spindle Cell Melanoma

Sebaceous Adenoma

Adenoma Of The Sebaceous Gland

Skin Appendage Sebaceous Adenoma

Neurofibromatosis, Type I

Von Recklinghausen Disease

Neurofibromatosis 1

Neurofibromatosis, Type 1

NF1

Neurofibromatosis, Peripheral Type

Neurofibromatosis Type I

Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

Familial Spinal Neurofibromatosis

Fsnf

Peripheral Neurofibromatosis

Von Recklinghausen'S Neurofibromatosis

Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion

Neurofibromatosis Peripheral Type

Von Recklinghausen Syndrome

Neurofibromatosis Type 1

Von Recklinghausen Neuropathy

Nf1 - [Neurofibromatosis Type 1]

Recklinghausen Disease

Descending Colon Cancer

Ca Descending Colon

Malignant Neoplasm Of Left Colon

Malignant Tumor Of Descending Colon

Malignant Neoplasm Of Descending Colon

Cecum Carcinoma

Cecum Cancer

Caecum Carcinoma

Carcinoma Of Cecum

Cecal Cancer

Malignant Neoplasm Of Caecum

Malignant Tumor Of The Cecum

Rectosigmoid Cancer

Rectosigmoid Junction Cancer

Malignant Neoplasm Of Rectosigmoid Junction

Malignant Neoplasm Of Rectosigmoid

Malignant Rectosigmoid Tumor

Malignant Tumor Of Rectosigmoid Junction

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

Gastrointestinal Adenoma

Gi Adenoma

Digestive System Adenoma

Appendix Carcinoid Tumor

Appendix Carcinoid Endocrine Tumour

Carcinoid Tumor Of Appendix

Jejunal Cancer

Jejunal Neoplasms

Malignant Neoplasm Of Jejunum

Malignant Tumor Of Jejunum

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

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

Renal Pelvis Carcinoma

Malignant Neoplasm Of Renal Pelvis

Malignant Tumor Of Renal Pelvis

Carcinoma Of Kidney Pelvis

Malignant Renal Pelvis Neoplasm

Renal Pelvis Cancer

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

Transverse Colon Cancer

Malignant Neoplasm Of Transverse Colon

Ca Transverse Colon

Malignant Tumor Of Transverse Colon

Carcinoma Transverse Colon Nos

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

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

Jejunal Adenocarcinoma
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

Ascending Colon Cancer

Malignant Tumor Of Ascending Colon

Ca Ascending Colon

Malignant Neoplasm Of Right Colon

Malignant Neoplasm Of Ascending Colon

Periampullary Adenoma
Female Reproductive Endometrioid Cancer

Endometrioid Tumor

Endometrioid Neoplasm

Female Reproductive Endometrioid Neoplasm

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

Fallopian Tube Serous Adenocarcinoma
Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma

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

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

Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole-Melanoma

Familial Atypical Multiple Mole Melanoma Syndrome

Melanoma-Pancreatic Cancer Syndrome

Famm Syndrome

B-K Mole Syndrome

Famm-Pc Syndrome

Fammm Syndrome

Familial Atypical Mole Syndrome

Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome

Familial Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole Melanoma

Dysplastic Nevus

Familial Atypical Mole Melanoma Syndrome

Duodenum Cancer

Duodenal Cancer

Duodenal Neoplasms

Cancer Of Duodenum

Duodenal Neoplasm

Duodenal Carcinoma

Cancer, Duodenal

Malignant Neoplasm Of Duodenum

Rectum Signet Ring Adenocarcinoma

Signet Ring Cell Adenocarcinoma Of Rectum

Familial Adenomatous Polyposis 1

Gardner Syndrome

Brain Tumor-Polyposis Syndrome 2

Familial Polyposis Of The Colon

Adenomatous Polyposis Coli

FAP1

Adenomatous Polyposis Of The Colon

Apc

Fpc

Gardner'S Syndrome

Polyposis, Adenomatous Intestinal

Adenoma, Periampullary, Somatic

Intestinal Polyposis, Osteomas, Sebaceous Cysts

Polyposis Coli And Multiple Hard And Soft Tissue Tumors

Apc-Related Attenuated Familial Adenomatous Polyposis

Apc-Related Afap

Apc-Related Attenuated Fap

Apc-Related Attenuated Familial Polyposis Coli

Turcot Syndrome With Polyposis

Gardners Syndrome

Adenomatous Polyposis Coli, Susceptibility To

Adenomatous Polyposis, Familial, 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 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

Duodenum Disease

Duodenal Diseases

Duodenal Disease

Duodenum Disorder

Signet Ring Cell Adenocarcinoma

Signet Ring Cell Carcinoma

Carcinoma, Signet Ring Cell

Signet Ring Carcinoma

Carcinoma Signet Ring Cell

Brain Cancer

Adult Brain Tumor

Malignant Neoplasm Of Brain

Brain Neoplasms

Brain Neoplasm

Neoplasm Of Brain

Primary Malignant Neoplasm Of Brain

Brain Tumors

Adult Malignant Brain Neoplasm

Brain Neoplasm, Adult

Bt - Brain Tumour

Malignant Brain Tumour

Malignant Primary Brain Neoplasm

Malignant Primary Brain Tumor

Malignant Tumor Of Adult Brain

Malignant Tumor Of Brain

Primary Brain Neoplasm

Primary Brain Tumor

Tumor Of The Brain

Brain Tumor, Adult

Brain Tumor Primary

Malignant Primary Brain Tumors

Primary Brain Tumors

Cancer, Brain

Brain Tumor, Primary

Gastric Body Carcinoma

Cancer Of Body Of Stomach

Carcinoma Of Body Of Stomach

Hereditary Mixed Polyposis Syndrome

Hmps

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

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

Villous Adenoma

Adenoma Villous

Adenoma, Villous

Endometrial Adenocarcinoma

Endometrial Endometrioid Adenocarcinoma

Endometrial Adenoacanthoma

Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation

Adenocarcinoma Of Endometrium

Adenocarcinoma Of The Endometrium

Adenocarcinoma Of Uterus

Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation

Endometrioid Adenoma Or Carcinoma

Endometrioid Adenomas And Carcinomas

Endometrioid Carcinoma Of Endometrium

Endometrium Adenocarcinoma

Rectal Benign Neoplasm

Neoplasm Of Rectum

Rectal Tumor

Rectum Neoplasm

Neoplasm Of The Rectum

Rectal Neoplasms

Primary Rectal Cancer

Rectal Ampulla Cancer

Cancer Of The Rectum

Carcinoma Of Rectum

Primary Malignant Neoplasm Of Rectum

Rectal Cancer

Rectal Carcinoma

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

Intestinal Benign Neoplasm

Intestinal Neoplasms

Intestinal Tumors

Intestine Growth

Neoplasm Of Intestinal Tract

Uterine Body Mixed Cancer

Malignant Mixed Tumor Of Corpus Uteri

Malignant Mixed Tumor, Not Otherwise Specified

Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

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

Colorectal Cancer, Hereditary Nonpolyposis, Type 5

HNPCC5

Hereditary Nonpolyposis Colorectal Cancer Type 5

Hereditary Non-Polyposis Colorectal Cancer 5

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5

Skin Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Skin

Epidermoid Skin Carcinoma

Squamous Cell Carcinoma Of The Skin

Squamous Cell Epithelioma Of Skin

Cutaneous Squamous Cell Carcinoma

Scc - [Squamous Cell Carcinoma] Of Skin

Colorectal Adenocarcinoma

Adenocarcinoma Of Large Intestine

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

Pulsating Exophthalmos
Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Pancreatic Signet Ring Cell Adenocarcinoma

Pancreatic Signet Ring Cell Carcinoma

Signet Ring Cell Carcinoma Of Pancreas

Rectum Adenocarcinoma

Rectal Adenocarcinoma

Adenocarcinoma Of Rectum

Desmoid Tumor

Aggressive Fibromatosis

Desmoid Type Fibromatosis

Familial Infiltrative Fibromatosis

Desmoid Disorder, Hereditary

Fif

Fibromatosis, Familial Infiltrative

Deep Fibromatosis

Desmoid Fibromatosis

Hereditary Desmoid Disease

Musculoaponeurotic Fibromatosis

Desmoid-Type Fibromatosis

Fibromatosis, Aggressive

Desmoid Disease, Hereditary

Musculo-Aponeurotic Fibromatosis

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Gastrointestinal System Benign Neoplasm
Lung Clear Cell Carcinoma
Lymphangioma

Lymphatic Malformation

Lymphatic Malformations

Benign Lymphangioma

Congenital Lymphangioma

Lymphangiomas

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

Medullary Colon Carcinoma
Endocervical Carcinoma

Carcinoma Of Endocervix

Carcinoma Of The Endocervix

Chronic Congestive Splenomegaly
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

Cervical Adenosarcoma

Cervical Muellerian Adenosarcoma

Cervical Mullerian Adenosarcoma

Fallopian Tube Endometrioid Adenocarcinoma

Endometrioid Carcinoma Of The Fallopian Tube

Fallopian Tube Endometrioid Cancer

Fallopian Tube Endometrioid Neoplasm

Fallopian Tube Endometrioid Tumor

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

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
Canis familiaris PMS2 VGNC VGNC:54058
Mus musculus PMS2 MGD MGI:104288
Felis catus PMS2 VGNC VGNC:80674
Bos taurus PMS2 VGNC VGNC:97303
Rattus norvegicus PMS2 RGD RGD:1305483
Macaca mulatta PMS2 VGNC VGNC:108428