1. Gene
  2. EGF - epidermal growth factor Gene

EGF - epidermal growth factor Gene

中文名称:表皮生长因子

种属: Homo sapiens

同用名: URG; HOMG4

基因 ID: 1950 | 基因类型: protein coding

关于 EGF

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,912,883-110,013,766 (from NCBI)

This gene has 13 transcripts (splice variants), 188 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 47.7), pancreas (RPKM 9.8) and 1 other tissue.

功能概要

该基因编码表皮生长因子超家族的一个成员。编码的前原蛋白经过蛋白水解处理,生成 53 个氨基酸的表皮生长因子肽。这种蛋白质是一种有效的促有丝分裂因子,在多种细胞类型的生长、增殖和分化中起着重要作用。这种蛋白质通过以高亲和力结合细胞表面受体、表皮生长因子受体来发挥作用。该基因的缺陷是 4 型低镁血症的原因。该基因的失调与某些癌症的生长和进展有关。选择性剪接会产生多种转录物变体,其中至少一种会编码经过蛋白水解处理的前原蛋白。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

EGF 基因产物(4)

mRNA Protein Name
NM_001178130.3 NP_001171601.1 pro-epidermal growth factor isoform 2 precursor
NM_001178131.3 NP_001171602.1 pro-epidermal growth factor isoform 3 precursor
NM_001357021.2 NP_001343950.1 pro-epidermal growth factor isoform 4 precursor
NM_001963.6 NP_001954.2 pro-epidermal growth factor isoform 1 preproprotein
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 growth factor activity IDA
IDA: 通过直接分析推断
7736574 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
20353436 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
2790960 GOA
enables receptor ligand activity IDA
IDA: 通过直接分析推断
11336639 GOA
enables transmembrane receptor protein tyrosine kinase activator activity IDA
IDA: 通过直接分析推断
11336639 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERBB2-EGFR signaling pathway IDA
IDA: 通过直接分析推断
11336639 GOA
involved in ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
16314496 GOA
involved in angiogenesis IDA
IDA: 通过直接分析推断
15611079 GOA
involved in epidermal growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
15611079 GOA
involved in epidermal growth factor receptor signaling pathway IMP
IMP: 通过突变表型推断
22732145 GOA
involved in negative regulation of secretion IDA
IDA: 通过直接分析推断
10559227 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
16314496 GOA
involved in positive regulation of MAPK cascade IDA
IDA: 通过直接分析推断
15611079 GOA
involved in positive regulation of MAPK cascade IMP
IMP: 通过突变表型推断
18722344 GOA
involved in positive regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
20302655 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
25678558 GOA
acts upstream of or within positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
7736574 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
15611079 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
18722344 GOA
involved in positive regulation of endothelial cell migration IDA
IDA: 通过直接分析推断
31915155 GOA
involved in positive regulation of endothelial cell proliferation IDA
IDA: 通过直接分析推断
31915155 GOA
involved in positive regulation of epithelial tube formation IDA
IDA: 通过直接分析推断
31915155 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
25678558 GOA
involved in positive regulation of hyaluronan biosynthetic process IDA
IDA: 通过直接分析推断
17324121 GOA
involved in positive regulation of mitotic nuclear division IDA
IDA: 通过直接分析推断
15611079 GOA
involved in positive regulation of peptidyl-threonine phosphorylation IDA
IDA: 通过直接分析推断
16314496 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
31915155 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IGI
IGI: 通过遗传相互作用推断
31915155 GOA
involved in positive regulation of phosphorylation IDA
IDA: 通过直接分析推断
15611079 GOA
involved in positive regulation of protein localization to early endosome IDA
IDA: 通过直接分析推断
22298428 GOA
involved in positive regulation of receptor internalization IDA
IDA: 通过直接分析推断
22732145 GOA
involved in regulation of calcium ion import IDA
IDA: 通过直接分析推断
19996314 GOA
involved in regulation of protein localization to cell surface IDA
IDA: 通过直接分析推断
19996314 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular exosome IDA
IDA: 通过直接分析推断
21082674 GOA
is active in extracellular space IDA
IDA: 通过直接分析推断
11336639 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

EGF 蛋白结构

EGF_CA

EGF_CA: Calcium-binding EGF domain (356 - 395)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (439 - 476)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (524 - 564)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (568 - 607)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (611 - 650)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (654 - 693)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (745 - 780)

EGF_CA

EGF_CA: Calcium-binding EGF domain (870 - 910)

EGF_CA

EGF_CA: Calcium-binding EGF domain (912 - 941)

EGF

EGF: EGF-like domain (981 - 1011)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1207 a.a.
蛋白主名 其他名称

pro-epidermal growth factor

beta-urogastrone

EGF 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
EGF P01133 MGST1 Homo sapiens P10620
Validated Y2H
32296183
种属内
EGF P01133 MGST1 Homo sapiens P10620
Y2H Prey Pooling
32296183
种属内
EGF P01133 MGST1 Homo sapiens P10620
Y2H Array
32296183
种属内
EGF P01133 EGFR Homo sapiens P00533
X-Ray Diffraction
12620237
种属内
EGF P01133 EGFR Homo sapiens P00533
Crosslink
30083275
种属内
EGF P01133 EGFR Homo sapiens P00533
X-Ray Diffraction
12297050
种属内
EGF P01133 EGFR Homo sapiens P00533
Crosslink
9135143
种属内
EGF P01133 EGFR Homo sapiens P00533
Saturation Binding
2790960
种属内
EGF P01133 EGFR Homo sapiens P00533
SPR
28988771
种属内
EGF P01133 EGFR Homo sapiens P00533
SPR
21439278
种属间
EGF P01133 Egfr Mus musculus Q01279
SPR
21439278
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 EGF 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7109 EGF Protein, Human P01133-1 (N971-R1023) ≥95%
HY-P72982 EGF Protein, Human (Solution, HEK293, N-hFc) NP_001954.2 (N971-R1023) ≥95%
HY-P7109G GMP EGF Protein, Human P01133 (N971-R1023) ≥95%
HY-P700051AF Animal-Free EGF Protein, Human (His) A0A494C018 (N848-R900) ≥95%
HY-P72982A EGF Protein, Human (HEK293, N-hFc) NP_001954.2 (N971-R1023) ≥95%

关联疾病

疾病名称 别名
Hypomagnesemia 4, Renal

Renal Hypomagnesemia 4

HOMG4

Hypomagnesemia, Renal, Normocalciuric

Hypomagnesemia 4

Renal Hypomagnesemia Normocalciuric

Hypomagnesemia, Type 4, Renal

Egf-Related Primary Hypomagnesemia With Intellectual Disability
Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

Breast Cyst

Cyst Of The Breast

Breast Cysts

Short Bowel Syndrome

Short Gut Syndrome

Acquired Short Bowel Syndrome

Secondary Short Bowel Syndrome

Short Bowel Nos

Otorrhea

Discharging Ear

Mal De Meleda

Meleda Disease

Keratosis Palmoplantaris Transgrediens Of Siemens

MDM

Transgrediens Palmoplantar Keratoderma Of Siemens

Acroerythrokeratoderma

Keratosis Palmoplantaris Transgradiens Of Siemens

Factor Vii Deficiency

Hypoproconvertinemia

F7 Deficiency

Congenital Proconvertin Deficiency

Congenital Factor Vii Deficiency

Factor 7 Deficiency

Deficiency, Stable

Proconvertin Deficiency

Prothrombin Conversion Accelerator Deficiency

Serum Prothrombin Conversion Accelerator Deficiency

Proconvertin Deficiency, Congenital

FA7D

Stable Disease

Deficiency, Factor Vii

Cerebral Meningioma

Meningioma Of Cerebrum

Chronic Ulcer Of Skin

Chronic Wounds

Callous Ulcer

Indolent Ulcer

Chronic Ulcer

Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

Gastric Ulcer

Stomach Ulcer

Acute Gastric Ulcer With Haemorrhage And Perforation

Acute Gastric Ulcer With Hemorrhage And Obstruction

Acute Gastric Ulcer With Hemorrhage And Perforation

Acute Gastric Ulcer With Hemorrhage And Perforation, With Obstruction

Acute Gastric Ulcer With Hemorrhage And Perforation, Without Mention Of Obstruction

Acute Gastric Ulcer With Hemorrhage And With Perforation But Without Obstruction

Acute Gastric Ulcer With Hemorrhage, With Obstruction

Acute Gastric Ulcer With Hemorrhage, With Perforation And With Obstruction

Acute Gastric Ulcer With Perforation

Acute Gastric Ulcer With Perforation And Obstruction

Acute Gastric Ulcer With Perforation, With Obstruction

Acute Gastric Ulcer Without Hemorrhage And Without Perforation

Acute Gastric Ulcer Without Hemorrhage, Without Perforation And Without Obstruction

Acute Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction

Bleeding Acute Gastric Ulcer

Chronic Gastric Ulcer Without Hemorrhage And Without Perforation

Chronic Gastric Ulcer Without Hemorrhage And Without Perforation But With Obstruction

Chronic Gastric Ulcer Without Mention Of Hemorrhage Or Perforation, With Obstruction

Gastric Ulcers

Cushings Ulcer

Cushing'S Ulcer Of Stomach

Peptic Ulcer Of Stomach

Mucosal Defect Of The Stomach

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

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

Perinatal Necrotizing Enterocolitis

Necrotizing Enterocolitis

Enterocolitis Necrotizing

Enterocolitis, Necrotizing

Necrotizing Enterocolitis In Fetus Or Newborn

Perinatal Necrotising Enterocolitis

Pseudomembranous Enterocolitis In Newborn

Nec

Pertussis

Whooping Cough

Bordetella Infections

Bordetella Infection

Bordetella Pertussis Infection

Wc - Whooping Cough

Whooping Cough Due To Unspecified Organism

Bordetellosis

Tussis Convulsiva

Whooping Cough, Unspecified Organism

Wc - [Whooping Cough]

Whooping Cough Due To B. Parapertussis

Infection Due To Bordetella Parapertussis

Breast Disease

Breast Diseases

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

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

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

Cholesteatoma Of Middle Ear

Cholesteatoma

Epidermosis Of Ear

Epidermosis Of Middle Ear

Middle Ear Cholesteatoma

Cholesteatoma Of Middle Ear And Mastoid

Cholesteatoma Of Middle Ear And/Or Mastoid

Cholesteatoma Of The Middle Ear

Congenital Cholesteatoma

Primary Acquired Cholesteatoma

Secondary Acquired Cholesteatoma

Cholesteatoma Middle Ear

Cholesteatoma, Middle Ear

Cholesterolosis Of Middle Ear

Cholesterosis Of Ear

Cholesterosis Of Middle Ear

Cholesteatoma Nos

Epidermoid Cholesteatoma

Middle Ear Granuloma

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

Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae

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

Donohue Syndrome

Leprechaunism

Leprechaunism Syndrome

Donohue'S Syndrome

LEPRCH

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

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

Zollinger-Ellison Syndrome

Gastrinoma

Pancreatic Ulcerogenic Tumor Syndrome

Z E Syndrome

Zes

Ze - [Zollinger-Ellison] Syndrome

Choriocarcinoma

Chorioepithelioma

Folliculitis
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

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Costello Syndrome

Faciocutaneoskeletal Syndrome

Fcs Syndrome

Congenital Myopathy With Excess Of Muscle Spindles

CSTLO

CMEMS

Fcss

Myopathy, Congenital, With Excess Of Muscle Spindles

Cystitis

Infective Cystitis

Urocystitis

Pyocystitis

Bladder Exstrophy

Exstrophy Of The Bladder

Classic Exstrophy Of The Bladder

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Hypersplenism

Hypersplenia

Big Spleen Syndrome

Hyperfunction Of Spleen

Increased Splenic Activity

Spleen Metaplasia

Splenic Metaplasia

Duodenal Ulcer

Stress Ulcer

Curling Ulcer

Stress Ulcer Of Stomach

Curling'S Ulcers

Duodenal Ulcer Disease

Duodenal Ulcers

Duodenal Peptic Ulcer

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Glioma
Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Obstructive Nephropathy

Con

Congenital Obstructive Nephropathy

Nephropathy Obstructive

Thrombasthenia
Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

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

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

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Cholecystitis

Acute Cholecystitis

Chronic Cholecystitis

Acalculous Cholecystitis

Acute And Chronic Cholecystitis

Acute On Chronic Cholecystitis

Gallstone Cholecystitis

Cholecystitis, Acute

Calculus Of Gallbladder With Cholecystitis

Gallbladder Inflammation

Acute Cholecystitis Infection

Acute Acalculous Cholecystitis

Chronic Acalculous Cholecystitis

Nonfunctioning Gallbladder

Mixed Cell Adenoma
Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

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

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

Gingival Overgrowth

Gingival Enlargement

Gingival Hyperplasia

Gingival Bulge

Gingival Enlargement Nos

Gingival Hypertrophy

Gum Hypertrophy

Hyperplasia Gum

Gingival Thickening

Hyperplasia Of Gingiva

Hypertrophy Of Gingiva

Hypertrophy Of Mucous Membrane Of Gums

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency

IGF1 DEFICIENCY

Insulin-Like Growth Factor I, Resistance To

Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor I Resistance

IGF1RES

Igf-I Resistance

Somatomedin, End-Organ Insensitivity To

Somatomedin-C

Somatomedin-C, Resistance To

Growth Retardation With Sensorineural Deafness And Mental Retardation

Insulin-Like Growth Factor 1 Resistance To

Igf-1 Resistance

Somatomedin End-Organ Insensitivity To

Somatomedin-C Resistance To

Growth Restriction With Sensorineural Deafness And Intellectual Disability

Growth Delay-Deafness-Intellectual Disability Syndrome

Growth Delay-Hearing Loss-Intellectual Disability Syndrome

Igf-1 Deficiency

Primary Insulin-Like Growth Factor Deficiency

Resistance To Igf-1

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity To Somatomedin

Igf1 Resistance

Resistance To Insulin-Like Growth Factor I

Resistance To Somatomedin-C

Insulin-Like Growth Factor 1, Resistance To

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Histoplasmosis

Darling Disease

Reticuloendotheliosis, X-Linked

Infection By Histoplasma Capsulatum

Histoplasma Infection

Reticuloendothelial Cytomycosis

Cytomycosis

Darling Histoplasmosis

African Histoplasmosis

Histoplasmosis Duboisii

Prolactinoma

Prolactin-Producing Pituitary Gland Adenoma

Prolactin-Secreting Pituitary Adenoma

Forbes-Albright Syndrome

Lactotroph Adenoma

Prl-Secreting Pituitary Adenoma

Prloma

Pituitary Lactotrophic Adenoma

Familial Prolactinoma

Pituitary Adenoma, Prolactin-Secreting

Prolactinoma Of Pituitary Gland

PSPA

High Grade Glioma

Malignant Glioma

Glial Cell Tumor

Glioma, Malignant

Malignant Neuroglial Tumor

Neuroglial Tumor

Glioma

Malignant Gliomas

Gastrointestinal Carcinoma

Gastrointestinal Neoplasms

Papilloma

Papillomatosis

Thyroid Gland Anaplastic Carcinoma

Anaplastic Thyroid Carcinoma

Anaplastic Thyroid Cancer

Thyroid Cancer, Anaplastic

Thyroid Carcinoma, Anaplastic

Thyroid Carcinoma Anaplastic

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Breast Carcinoma In Situ

Carcinoma In Situ Of Breast

Non-Infiltrating Carcinoma Of Breast

Breast Cancer In Situ

Kidney Cancer

Renal Cancer

Renal Carcinoma

Kidney Neoplasm

Malignant Neoplasm Of Kidney Except Pelvis

Malignant Tumour Of Kidney

Kidney Neoplasms

Cancer, Kidney

Cancer, Renal

Malignant Neoplasm Of Kidney

Renal Cell Carcinoma

Psoriasis
Tongue Carcinoma

Tongue Cancer

Malignant Neoplasm Of Tongue

Tongue Neoplasms

Tongue Neoplasm

Laryngeal Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Larynx

Squamous Cell Carcinoma Of Larynx

Squamous Cell Carcinoma Of The Larynx

Squamous Cell Carcinoma Of Head And Neck

Punctate Epithelial Keratoconjunctivitis

Punctate Keratitis

Thygeson Superficial Punctate Keratitis

Thygeson'S Superficial Punctate Keratitis

Thygeson Superficial Punctate Keratopathy

Punctate Epithelial Keratitis

Pre-Malignant Neoplasm
Keratopathy
Breast Lobular Carcinoma

Cancer, Breast, Lobular

Lobular Breast Carcinoma

Ductal Carcinoma In Situ

Noninfiltrating Intraductal Carcinoma

In Situ Carcinoma

Carcinoma In Situ

Estrogen-Receptor Negative Breast Cancer
Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3

Spondylocostal Dysostosis, Autosomal Recessive 3

Spondylocostal Dysostosis 3

Autosomal Recessive Spondylocostal Dysostosis 3

Doid:0112361

Dysostosis, Spondylocostal, Autosomal Recessive, Type 3

Jarcho-Levin Syndrome

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

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Deafness, Autosomal Dominant 56

DFNA56

Autosomal Dominant Nonsyndromic Deafness 56

Autosomal Dominant Deafness 56

Deafness, Autosomal Dominant, 56

Deafness, Autosomal Dominant, Type 56

Paronychia

Paronychia Inflammation

Onychomycosis

Fungal Nail Infection

Infected Nailfold

Onychia And Paronychia Of Finger

Onychia And Paronychia Of Toe

Fungal Infection Of The Nails

Hepatoblastoma
Lung Carcinoma In Situ
Doyne Honeycomb Retinal Dystrophy

DHRD

Doyne Honeycomb Degeneration Of Retina

Dhd

Malattia Leventinese

Ml

Mlvt

Dystrophy, Retinal, Doyne Honeycomb

Decubitus Ulcer

Pressure Ulcer

Pressure Sores

Pressure Ulcers

Bedsore

Decubitus Ulcer

Decubitus Ulcer Any Site

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

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

Non-Syndromic X-Linked Intellectual Disability 96

Mrx96

X-Linked Mental Retardation 96

Corneal Ulcer

Cornea Ulcer

Ulcerative Keratitis

Corneal Ulcer Nos

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome

Ers

Amelogenesis Imperfecta Type 1g

AI1G

Enamel-Renal-Gingival Syndrome

Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

Aigfs

Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

Amelogenesis Imperfecta Type Ig

Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

Amelogenesis Imperfecta 1g

Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

Amelogenesis Imperfecta Nephrocalcinosis

Pulmonary Adenocarcinoma In Situ

Bronchioalveolar Carcinoma

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

Lacrimal Apparatus Disease

Lacrimal Apparatus Diseases

Brain Glioblastoma Multiforme

Brain Glioblastoma

Glioblastoma Multiforme Of Brain

Glioblastoma Nos

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

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

Dry Eye Syndrome

Dry Eye Syndromes

Dry Eye Disease

Tear Film Insufficiency

Xerophthalmia

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Breast Benign Neoplasm

Benign Tumour Of Breast

Benign Neoplasm Of Female Breast

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Thoracic Benign Neoplasm

Benign Neoplasm Of Thorax

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

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

Colon Adenoma

Adenomatous Polyp Of Colon

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Estrogen-Receptor Positive Breast Cancer
Corneal Disease

Corneal Diseases

Corneal Disorders

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Intestinal Benign Neoplasm

Intestinal Neoplasms

Intestinal Tumors

Intestine Growth

Neoplasm Of Intestinal Tract

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

Pancreatic Ductal Carcinoma

Carcinoma, Pancreatic Ductal

Malignant Neoplasm Of Duct Of Wirsung

Pancreatic Duct Cancer

Carcinoma Pancreatic Ductal

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Colorectal Adenocarcinoma

Adenocarcinoma Of Large Intestine

Brain Glioma

Lower Grade Glioma

Intracranial Glioma

Glioma Nos

Oropharynx Cancer

Oropharyngeal Cancer

Oropharyngeal Carcinoma

Malignant Neoplasm Of Oropharynx

Malignant Oropharyngeal Tumor

Malignant Tumor Of Oropharynx

Malignant Tumour Of Mesopharynx

Oropharyngeal Cancer, Adult

Cancer Of The Oropharynx

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Infratentorial Cancer

Infratentorial Neoplasms

Brain Neoplasm, Infratentorial

Malignant Infratentorial Tumors

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

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

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

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Suppression Of Tumorigenicity 12

Prostate Adenocarcinoma

Adenocarcinoma Of Prostate

ST12

Prostate Adenocarcinoma 1

Pac1

Diabetes Mellitus

Diabetes

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Lymphangioma

Lymphatic Malformation

Lymphatic Malformations

Benign Lymphangioma

Congenital Lymphangioma

Lymphangiomas

Head And Neck Cancer

Head And Neck Neoplasm

Head And Neck Tumours

Head/Neck Neoplasm

Tumor Of Head And Neck

Head And Neck Neoplasms

Hnc

Cancer, Head/Neck

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Malignant Astrocytoma

Astrocytic Tumor

Astrocytoma Of Brain

Astrocytoma Of Cerebrum

Astroglioma

Cerebral Astrocytoma

Astrocytoma

Prolapse Of Urethra

Urethrocele

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Pyriform Sinus Cancer

Malignant Neoplasm Of Pyriform Fossa

Malignant Neoplasm Of The Pyriform Fossa

Malignant Tumor Of Pyriform Fossa

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Macaca mulatta EGF VGNC VGNC:72171
Canis familiaris EGF VGNC VGNC:40235
Rattus norvegicus EGF RGD RGD:2542
Felis catus EGF VGNC VGNC:61755
Mus musculus EGF MGD MGI:95290
Macaca fascicularis EGF NCBI NCBI:102123415
Susscrofa domestica EGF NCBI
Leporidae EGF NCBI
Others EGF NCBI