1. Gene
  2. BRCA2 - BRCA2 DNA repair associated Gene

BRCA2 - BRCA2 DNA repair associated Gene

中文名称:BRCA2 DNA 修复相关

种属: Homo sapiens

同用名: FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2

基因 ID: 675 | 基因类型: protein coding

关于 BRCA2

Cytogenetic location: 13q13.1 Genomic coordinates (GRCh38): 13:32,315,508-32,400,268 (from NCBI)

This gene has 15 transcripts (splice variants), 174 orthologues and is associated with 182 phenotypes. Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues.

功能概要

BRCA1 和该基因 BRCA2 的遗传突变会增加患乳腺癌或卵巢癌的终生风险。 BRCA1 和 BRCA2 都参与维持基因组稳定性,特别是双链 DNA 修复的同源重组途径。两个基因中最大的外显子是外显子 11,它包含乳腺癌患者中最重要和最频繁的突变。 BRCA2 基因发现于人类染色体 13q12.3。 BRCA2 蛋白包含多个称为 BRC 基序的 70 aa 基序的拷贝,这些基序介导与在 DNA 修复中发挥作用的 RAD51 重组酶的结合。 BRCA2 被认为是一种肿瘤抑制基因,因为具有 BRCA2 突变的肿瘤通常表现出野生型等位基因的杂合性缺失 (LOH) 。[RefSeq 提供,2020 年 5 月]

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian Cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast Cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]

BRCA2 基因产物(5)

mRNA Protein Name
NM_000059.4 NP_000050.3 breast cancer type 2 susceptibility protein isoform 1
NM_001406719.1 NP_001393648.1 breast cancer type 2 susceptibility protein isoform 3
NM_001406720.1 NP_001393649.1 breast cancer type 2 susceptibility protein isoform 2
NM_001406721.1 NP_001393650.1 breast cancer type 2 susceptibility protein isoform 4
NM_001406722.1 NP_001393651.1 breast cancer type 2 susceptibility protein isoform 5
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 gamma-tubulin binding IPI
IPI: 通过物理相互作用推断
17286961 GOA
enables histone H3 acetyltransferase activity IDA
IDA: 通过直接分析推断
9619837 GOA
enables histone H4 acetyltransferase activity IDA
IDA: 通过直接分析推断
9619837 GOA
NOT enables histone acetyltransferase activity IDA
IDA: 通过直接分析推断
9824164 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21601571 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
15314155 GOA
enables protein binding IDA
IDA: 通过直接分析推断
9774970 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9560268 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
20729832 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BRCA2-MAGE-D1 complex IDA
IDA: 通过直接分析推断
15930293 GOA
part of DNA repair complex IPI
IPI: 通过物理相互作用推断
19369211 GOA
located in centrosome IDA
IDA: 通过直接分析推断
17286961 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
21076401 GOA
located in lateral element IDA
IDA: 通过直接分析推断
9774970 GOA
part of nuclear ubiquitin ligase complex IDA
IDA: 通过直接分析推断
14636569 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9560268 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
9774970 GOA
located in secretory granule IDA
IDA: 通过直接分析推断
8589722 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

BRCA2 蛋白结构

BRCA2

BRCA2: BRCA2 repeat (1002 - 1036)

BRCA2

BRCA2: BRCA2 repeat (1212 - 1246)

BRCA2

BRCA2: BRCA2 repeat (1421 - 1454)

BRCA2

BRCA2: BRCA2 repeat (1517 - 1550)

BRCA2

BRCA2: BRCA2 repeat (1664 - 1696)

BRCA2

BRCA2: BRCA2 repeat (1837 - 1869)

BRCA2

BRCA2: BRCA2 repeat (1972 - 2005)

BRCA2

BRCA2: BRCA2 repeat (2051 - 2084)

BRCA-2_helical

BRCA-2_helical: BRCA2, helical (2479 - 2667)

BRCA-2_OB1

BRCA-2_OB1: BRCA2, oligonucleotide/oligosaccharide-binding, domain 1 (2670 - 2799)

Tower

Tower: Tower (2831 - 2872)

BRCA-2_OB3

BRCA-2_OB3: BRCA2, oligonucleotide/oligosaccharide-binding, domain 3 (3052 - 3190)

  • 0
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  • 2400
  • 3000
  • 3418 a.a.
蛋白主名 其他名称

breast cancer type 2 susceptibility protein

BRCA1/BRCA2-containing complex, subunit 2

关联疾病

疾病名称 别名
Fanconi Anemia, Complementation Group D1

Fanconi Anemia Complementation Group D1

FANCD1

Fad1

Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations

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

Breast-Ovarian Cancer, Familial 2

Breast-Ovarian Cancer, Familial, Susceptibility To, 2

Breast-Ovarian Cancer, Familial, 2

BROVCA2

Hboc2

Breast Cancer Familial 2

Ovarian Cancer Familial 2

Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 2

Pancreatic Cancer 2

Pancreatic Cancer, Susceptibility To, 2

PNCA2

Cancer, Pancreatic, Susceptibility To, Type 2

Glioma Susceptibility 3

GLM3

Glioblastoma 3

Glioma 3

Glioma, Susceptibility, Type 3

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

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Bilateral Breast Cancer

Bilateral Breast Carcinoma

Islet Cell Tumor

Pancreatic Neuroendocrine Tumor

Neuroendocrine Tumor Of Pancreas

Pnet

Pancreatic Net

Pancreatic Endocrine Tumor

Well-Differentiated Nen Of Pancreas

Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

Well-Differentiated Pancreatic Nen

Well-Differentiated Pancreatic Neuroendocrine Neoplasm

Endocrine Pancreas Cancer

Islet Cell Neoplasm

Islet Cell Tumour

Malignant Pancreatic Endocrine Tumor

Malignant Pancreatic Endocrine Tumour

Malignant Tumor Of Endocrine Pancreas

Malignant Tumour Of Endocrine Pancreas

Pancreatic Endocrine Neoplasm

Pancreatic Neuroendocrine Neoplasm

Adenoma, Islet Cell

Well Differentiated Pancreatic Endocrine Tumor

Malignant Neoplasm Of Endocrine Pancreas

Pancreatic Endocrine Carcinoma

Headache

Headache Disorder

Ovarian Cancer 1

Ovarian Cancer, Susceptibility To

Ovarian Cancer, Susceptibility To, 1

OVCAS1

Ovarian Cancer

Ovarian Carcinoma

Malignant Neoplasm Of Ovary

Epithelial Ovarian Cancer

Breast-Ovarian Cancer, Familial 1

BROVCA1

Breast-Ovarian Cancer, Familial, Susceptibility To, 1

Breast-Ovarian Cancer, Familial, 1

Brca2 Hereditary Breast And Ovarian Cancer Syndrome

Hboc1

Brca1 Hereditary Breast And Ovarian Cancer Syndrome

Familial Susceptibility To Breast-Ovarian Cancer 1

Brovca2

Familial Susceptibility To Breast-Ovarian Cancer 2

Hboc

Breast Cancer Familial 1

Ovarian Cancer Familial 1

Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 1

Chordoma

CHDM

Notochordoma

Notochordal Sarcoma

Chordoma, Susceptibility To

Chordocarcinoma

Chordoepithelioma

Diffuse Midline Glioma, H3 K27m-Mutant

Diffuse Intrinsic Pontine Glioma

Dipg

Infiltrative Brainstem Glioma

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Tumor Predisposition Syndrome 1

TPDS1

Tumor Predisposition Syndrome

TPDS

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia

POH

Osteoma Cutis

Familial Ectopic Ossification

Ectopic Ossification Familial Type

Ectopic Ossification

Heterotopic Ossification

Ectopic Ossification, Familial

Cutaneous Ossification

Myositis Ossificans Progressiva

Osteodermia

Osteosis Cutis

Ossification Heterotopic

Heteroplasia, Osseous, Progressive

Fibrodysplasia Ossificans Progressiva

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia

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

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

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

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

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

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

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Rhabdomyosarcoma
Genetic Non-Acquired Premature Ovarian Failure
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

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

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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

Hereditary Breast Cancer

Familial Breast Cancer

Familial Breast Carcinoma

Hereditary Breast Carcinoma

Fallopian Tube Carcinoma

Fallopian Tube Cancer

Cancer Of The Fallopian Tube

Carcinoma Of Fallopian Tube

Neoplasm Of Fallopian Tube

Fallopian Tube Neoplasms

Fallopian Tube Ca

Fallopian Tube Neoplasm

Malignant Neoplasm Of Uterine Tube

Malignant Tumor Of Fallopian Tube

Malignant Tumour Of Fallopian Tube

Tumor Of The Fallopian Tube

Tumor, Fallopian Tube, Malignant

Malignant Tumor Of Fallopian Tubes

Cancer Of Fallopian Tubes

Malignant Tubal Tumor

Tubal Cancer

Malignant Neoplasm Of Fallopian Tube

Primary Malignant Neoplasm Of Fallopian Tube

Cancer Of The Oviduct

Polyposis Syndrome, Hereditary Mixed, 1

HMPS1

Colorectal Adenoma And Carcinoma 1

Crac1

Colorectal Cancer 4

Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb

Colorectal Cancer, Susceptibility To, 4

Hereditary Mixed Polyposis Syndrome 1

Polyposis Syndrome, Hereditary Mixed 1

CRCS4

Susceptibility To Colorectal Cancer On Chromosome 15

Polyposis Syndrome, Mixed Hereditary 1

Adenomatous Polyps

Hereditary Site-Specific Ovarian Cancer Syndrome
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

Hepatoblastoma
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D

Ocular Cancer

Eye Neoplasm

Eye Carcinoma

Eye Cancer

Eye Neoplasms

Malignant Eye Neoplasm

Neoplasm Of Eye

Neoplasm Of Eye Proper

Ocular Tumor

Carcinoma Of Eye

Ocular Carcinoma

Malignant Tumor Of Eye

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

Female Breast Cancer

Female Breast Carcinoma

Carcinoma Of Female Breast

Mammary Carcinoma Of Female Breast

Malignant Neoplasm Of Female Breast

Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

Fanconi Anemia, Complementation Group F

Fanconi Anemia Complementation Group F

FANCF

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

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

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

Tetraploidy

Tetraploidy Syndrome

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Acinar Cell Carcinoma

Acinic Cell Carcinoma

Acinic Cell Tumor

Carcinoma Acinar Cell

Carcinoma, Acinar Cell

Acinar Cell Tumor

Ocular Melanoma

Intraocular Melanoma

Uveal Melanoma

Eye Melanoma

Melanoma Of Eye

Melanoma Of The Uvea

Malignant Melanoma Of Eye

Fallopian Tube Disease

Fallopian Tube Diseases

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

Sporadic Breast Cancer

Sporadic Breast Carcinoma

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

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

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

Breast Carcinoma In Situ

Carcinoma In Situ Of Breast

Non-Infiltrating Carcinoma Of Breast

Breast Cancer In Situ

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

Breast Ductal Carcinoma

Ductal Breast Carcinoma

Duct Carcinoma

Carcinoma, Ductal

Mammary Ductal Carcinoma

Ductal Carcinoma

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

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

Peritoneum Cancer

Peritoneal Neoplasm

Cancer Of Peritoneum

Malignant Tumor Of Peritoneum

Peritoneal Neoplasms

Cancerophobia

Cancer Phobia

Fear Of Getting Cancer

Lobular Neoplasia

Lobular Carcinoma In Situ

Lobular Carcinoma In Situ Of Breast

Lobular Intraepithelial Neoplasia

Non-Infiltrating Lobular Carcinoma

Noninfiltrating Lobular Carcinoma Unspecified Site

Noninfiltrating Lobular Carcinoma Of Breast

Lobular Carcinoma In Situ Unspecified Site

In Situ Carcinoma

Carcinoma In Situ

Nosophobia
Pre-Malignant Neoplasm
Breast Disease

Breast Diseases

Ovarian Carcinosarcoma

Ovarian Malignant Mixed Mullerian Tumor

Mmmt Of The Ovary

Malignant Mixed Mullerian Tumor Of The Ovary

Ovarian Malignant Mixed Epithelial Mesenchymal Tumor

Ovarian Malignant Mesodermal Mixed Tumor

Ovarian Mmmt

Malignant Mixed Müllerian Tumor Of The Ovary

Ovarian Malignant Mixed Müllerian Tumor

Carcinosarcoma Of Ovary

Synchronous Bilateral Breast Carcinoma
Carcinosarcoma

Mixed Tumor, Mullerian

Malignant Mixed Mesodermal Tumor

Malignant Mixed Mullerian Tumor

Mmmt

Mixed Tumor, Mesodermal

Mesodermal Mixed Tumor

Mixed Mesodermal Tumor

Mullerian Mixed Tumor

Mixed Mullerian Tumor

Malignant Mixed Müllerian Tumor

Mixed Müllerian Tumor

Mixed Tumor Mullerian

Mixed Tumor, Not Otherwise Specified

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Breast Lobular Carcinoma

Cancer, Breast, Lobular

Lobular Breast Carcinoma

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

Choroid Plexus Cancer

Choroid Plexus Carcinoma

Choroid Plexus Neoplasms

Choroid Plexus Neoplasm

Tumor Of Choroid Plexus

Tumor Of The Choroid Plexus

Choroid Plexus Tumor

Choroid Plexus Tumors

Anaplastic Choroid Plexus Papilloma

Choroid Plexus Papilloma Nos

Papilloma Of Choroid Plexus

Plexus Choroideus Papilloma

Choroid Plexus Papilloma In Fourth Ventricle

Plexus Choroideus Papilloma In Fourth Ventricle

Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Ductal Carcinoma In Situ

Noninfiltrating Intraductal Carcinoma

Ovarian Disease

Ovarian Dysfunction

Ovarian Diseases

Ovarian Disorders

Disorder Of Endocrine Ovary

Papillary Serous Adenocarcinoma

Micropapillary Serous Carcinoma

Serous Surface Papillary Carcinoma

Papillary Serous Carcinoma

Papillary Serous Cystadenocarcinoma

Tay-Sachs Disease

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

Fanconi Anemia, Complementation Group N

Fanconi Anemia Complementation Group N

FANCN

Hypertrophy Of Breast

Breasts Enlarged

Large Breast

Hypertrophy Of Breast Nos

Hypertrophy Of Male Breast

Hypertrophic Breast

Excessive Development Of Breast

Macromastia

Mastoplastia

Ovary Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Neoplasm

Ovarian Transitional Cell Cancer

Ovarian Transitional Cell Neoplasm

Transitional Cell Carcinoma Of Ovary

Ovarian Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Tumor

Ovarian Transitional Cell Tumor

Endosalpingiosis
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

Combined Oxidative Phosphorylation Deficiency 17

COXPD17

Combined Oxidative Phosphorylation Defect Type 17

Combined Oxidative Phosphorylation Deficiency, Type 17

Pancreatic Acinar Cell Adenocarcinoma

Pancreatic Acinar Cell Carcinoma

Acinar Cell Adenocarcinoma Of The Pancreas

Breast Benign Neoplasm

Benign Tumour Of Breast

Benign Neoplasm Of Female Breast

Thoracic Benign Neoplasm

Benign Neoplasm Of Thorax

Estrogen-Receptor Negative Breast Cancer
Basaloid Lung Carcinoma

Basaloid Lung Cancer

Malignant Ovarian Surface Epithelial-Stromal Neoplasm

Malignant Ovarian Surface Epithelial-Stromal Tumor

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

Ovarian Cystadenocarcinoma

Cystadenocarcinoma Of Ovary

Cystadenocarcinoma Of The Ovary

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Ovary Adenocarcinoma

Ovarian Adenocarcinoma

Adenocarcinoma Of The Ovary

Ovarian Adenoacanthoma

Adenocarcinoma Of Ovary

Comedo Carcinoma

Comedocarcinoma

High Grade Ductal Breast Carcinoma In Situ

Cystadenocarcinoma
Physical Disorder

Physical Illness

Female Reproductive Endometrioid Cancer

Endometrioid Tumor

Endometrioid Neoplasm

Female Reproductive Endometrioid Neoplasm

Autosomal Recessive Cerebellar Ataxia

Arca

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

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

Ovary Epithelial Cancer

Ovarian Surface Epithelial-Stromal Tumor

Epithelial Tumor Of Ovary

Breast Fibroadenoma

Fibroadenoma

Fibroadenoma Of Breast

Juvenile Fibroadenoma Of Breast

Cellular Fibroadenoma

Complex Fibroadenoma Of Breast

Juvenile Fibroadenoma

Fibroadenoma Nos

Fibroadenoma Unspecified Site

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

Ovarian Serous Carcinoma

Ovarian Serous Adenocarcinoma

X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome

Mental Retardation, X-Linked, Syndromic 32

Mrxs32

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

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

Ovarian Serous Cystadenocarcinoma

Serous Cystadenoma

Cystadenoma Serous

Cystadenoma, Serous

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

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

Estrogen-Receptor Positive Breast Cancer
Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

Testicular Disease

Testicular Dysfunction

Testicular Diseases

Disorder Of Testis

Testis Disorder

Testicular Disorders

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Felis catus BRCA2 VGNC VGNC:60166
Macaca mulatta BRCA2 VGNC VGNC:70279
Rattus norvegicus BRCA2 RGD RGD:2219
Mus musculus BRCA2 MGD MGI:109337
Bos taurus BRCA2 VGNC VGNC:26554
Canis familiaris BRCA2 VGNC VGNC:38517
Others BRCA2 NCBI