NOTCH1 - notch receptor 1 Gene

Also Known as hN1; AOS5; TAN1; AOVD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4851

About NOTCH1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,494,433-136,546,048 (from NCBI)

This gene has 16 transcripts (splice variants), 273 orthologues, 7 paralogues and is associated with 182 phenotypes. Ubiquitous expression in fat (RPKM 9.4), spleen (RPKM 9.4) and 25 other tissues.

Summary

This gene encodes a member of the Notch family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]

NOTCH1 Products (2)

mRNA	Protein	Name
XM_011518717.3	XP_011517019.2	neurogenic locus notch homolog protein 1 isoform X1
NM_017617.5	NP_060087.3	neurogenic locus notch homolog protein 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	18239137	GOA
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18239137	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16738328	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10713164	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	23839946	GOA
enables transmembrane signaling receptor activity	IDA IDA: Inferred from direct assay	23839946	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	11306509	GOA
involved in Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	16025100	GOA
involved in aortic valve morphogenesis	IMP IMP: Inferred from mutant phenotype	16025100	GOA
involved in cellular response to follicle-stimulating hormone stimulus	IDA IDA: Inferred from direct assay	20613903	GOA
involved in cellular response to tumor cell	IDA IDA: Inferred from direct assay	11306509	GOA
involved in cellular response to vascular endothelial growth factor stimulus	IDA IDA: Inferred from direct assay	20616313	GOA
involved in epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	17984306	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	21457232	GOA
involved in mitral valve formation	IMP IMP: Inferred from mutant phenotype	16025100	GOA
involved in negative regulation of anoikis	IMP IMP: Inferred from mutant phenotype	17984306	GOA
involved in negative regulation of cell adhesion molecule production	IMP IMP: Inferred from mutant phenotype	17984306	GOA
involved in negative regulation of cell migration involved in sprouting angiogenesis	IDA IDA: Inferred from direct assay	20616313	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	20616313	GOA
involved in negative regulation of cell-cell adhesion mediated by cadherin	IMP IMP: Inferred from mutant phenotype	17984306	GOA
involved in negative regulation of cell-substrate adhesion	IDA IDA: Inferred from direct assay	16501043	GOA
involved in negative regulation of endothelial cell chemotaxis	IDA IDA: Inferred from direct assay	20616313	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	11306509	GOA
involved in negative regulation of myoblast differentiation	IMP IMP: Inferred from mutant phenotype	10713164	GOA
involved in negative regulation of stem cell differentiation	IMP IMP: Inferred from mutant phenotype	19682396	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17984306	GOA
involved in neuronal stem cell population maintenance	IEP IEP: Inferred from expression pattern	19682396	GOA
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	18593716	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	11306509	GOA
involved in positive regulation of Ras protein signal transduction	IDA IDA: Inferred from direct assay	11306509	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	17849174	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20613903	GOA
involved in positive regulation of smooth muscle cell differentiation	IDA IDA: Inferred from direct assay	18239137	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18239137	GOA
involved in pulmonary valve morphogenesis	IMP IMP: Inferred from mutant phenotype	16025100	GOA
involved in tube formation	IMP IMP: Inferred from mutant phenotype	20616313	GOA
involved in ventricular septum morphogenesis	IMP IMP: Inferred from mutant phenotype	16025100	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MAML1-RBP-Jkappa- ICN1 complex	IDA IDA: Inferred from direct assay	16510869	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NOTCH1 Protein Structure

EGF

EGF_CA

EGF

EGF_CA

hEGF

EGF_CA

EGF

EGF_CA

EGF

Notch

NOD

NODP

Ank_2

DUF3454

0
400
800
1200
1600
2000
2400
2555 a.a.

Protein Preferred Names	Protein Names
neurogenic locus notch homolog protein 1	Notch homolog 1, translocation-associated notch 1 translocation-associated notch protein TAN-1

NOTCH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NOTCH1	P46531	RBPJ	Homo sapiens	Q06330-6	Pull Down	19907488
Intra	NOTCH1	P46531	PAK1	Homo sapiens	Q13153	Anti Bait CoIP	33189893
Intra	NOTCH1	P46531	LILRB2	Homo sapiens	Q8N423	Anti Bait CoIP	25714926
Intra	NOTCH1	P46531	JAG1	Homo sapiens	P78504	SPR	18660822
Intra	NOTCH1	P46531	JAG1	Homo sapiens	P78504	NMR	18660822
Intra	NOTCH1	P46531	JAG1	Homo sapiens	P78504	Pull Down	18660822
Intra	NOTCH1	P46531	JAG1	Homo sapiens	P78504	ELISA	23086448
Intra	NOTCH1	P46531	JAG1	Homo sapiens	P78504	Confocal	23086448
Intra	NOTCH1	P46531	NFKB1	Homo sapiens	P19838	Anti Tag CoIP	16319921
Intra	NOTCH1	P46531	FBXW7	Homo sapiens	Q969H0	Anti Tag CoIP	25344755
Intra	NOTCH1	P46531	FBXW7	Homo sapiens	Q969H0	SLC	27229929
Intra	NOTCH1	P46531	FBXW7	Homo sapiens	Q969H0	Pull Down	25344755
Intra	NOTCH1	P46531	FBXW7	Homo sapiens	Q969H0	Anti Bait CoIP	25344755
Intra	NOTCH1	P46531	FBXW7	Homo sapiens	Q969H0	TAP	23022380
Intra	NOTCH1	P46531	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	18427106
Intra	NOTCH1	P46531	ATM	Homo sapiens	Q13315	Anti Bait CoIP	25895060
Intra	NOTCH1	P46531	ATM	Homo sapiens	Q13315	Anti Tag CoIP	25895060
Intra	NOTCH1	P46531	ATM	Homo sapiens	Q13315	Pull Down	25895060
Intra	NOTCH1	P46531	XIAP	Homo sapiens	P98170	Pull Down	17318174
Intra	NOTCH1	P46531	RBPJ	Homo sapiens	Q06330	Anti Tag CoIP	23022380
Intra	NOTCH1	P46531	RBPJ	Homo sapiens	Q06330	TAP	23022380
Intra	NOTCH1	P46531	SNW1	Homo sapiens	Q13573	CoIP	10713164
Intra	NOTCH1	P46531	MAML1	Homo sapiens	Q92585	Pull Down	19907488
Intra	NOTCH1	P46531	MAML1	Homo sapiens	Q92585	TAP	23022380
Intra	NOTCH1	P46531	MAML1	Homo sapiens	Q92585	Anti Tag CoIP	23022380
Intra	NOTCH1	P46531	MAML1	Homo sapiens	Q92585	Anti Bait CoIP	19907488
Intra	NOTCH1	P46531	MAML1	Homo sapiens	Q92585	Anti Bait CoIP	18427106
Intra	NOTCH1	P46531	KDM1A	Homo sapiens	O60341	Anti Tag CoIP	23022380
Intra	NOTCH1	P46531	KDM1A	Homo sapiens	O60341	Anti Bait CoIP	23022380
Intra	NOTCH1	P46531	KDM1A	Homo sapiens	O60341	TAP	23022380
Intra	NOTCH1	P46531	PIN1	Homo sapiens	Q13526	Pull Down	19151708
Intra	NOTCH1	P46531	PIN1	Homo sapiens	Q13526	Anti Bait CoIP	19151708

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NOTCH1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73742	NOTCH1 Protein, Human (HEK293, Fc)	P46531/NP_060087.3 (A19-Q526)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P78184	NOTCH1 Protein, Human (Biotinylated, HEK293, His-Avi)	P46531 (A19-Q526)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78501	NOTCH1 Protein, Human (HEK293, His-Avi)	P46531 (A19-Q526)	≥ 95%, as determined by Bis-Tris PAGE.

NOTCH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80426	Notch1 Antibody (YA262)	WB, ICC/IF, IHC-P, IP, FC	Human, Mouse
HY-P80768	Notch1 Antibody	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P86591	Notch1 Antibody (YA6283)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Squamous Cell Skin Cancer Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
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
Physical Disorder	Physical Illness
Skin Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Skin Epidermoid Skin Carcinoma Squamous Cell Carcinoma Of The Skin Squamous Cell Epithelioma Of Skin Cutaneous Squamous Cell Carcinoma Scc - [Squamous Cell Carcinoma] Of Skin
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Adams-Oliver Syndrome 5	AOS5 Adams-Oliver Syndrome, Type 5
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Congenital Megacolon Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against Hirschsprung'S Disease Congenital Intestinal Aganglionosis 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
Tongue Carcinoma	Tongue Cancer Malignant Neoplasm Of Tongue Tongue Neoplasms Tongue Neoplasm
Pancreatic Cancer	Pancreatic Carcinoma Familial Pancreatic Carcinoma Pancreatic Neoplasm Carcinoma Of Pancreas Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm 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 Cancer Of The Pancreas 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
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Chromosomal Duplication Syndrome
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
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
Takayasu Arteritis	Aortic Arch Syndrome Pulseless Disease Idiopathic Aortitis Young Female Arteritis Takayasu'S Arteritis Aortic Arch Arteritis Aortic Arches Defect Aortic Arch Defects Takayasu Disease Aortic Arch Syndromes Takayasu'S Disease Ta Obliterative Aortitis Aortic Arch Giant-Cell Arteritis Subclavian-Carotid Obstruction Syndrome Idiopathic Medial Aortopathy And Arteriopathy Takayasu Syndrome Obliterative Brachiocephalic Arteritis Syndrome Raeder-Harbitz Syndrome Chronic Subclavian-Carotid Obstruction Syndrome Giant-Cell Aortitis Takayasu Aortitis Nonspecific Aortoarteritis Sclerosing Aortitis And Arteritis Martorell 2 Syndrome Young Female Aortic Arch Arteritis Syndrome
Syndromic X-Linked Intellectual Disability 34	Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome Mental Retardation, X-Linked, Syndromic 34 Mrxs34 Mrxsml Syndromic X-Linked Mental Retardation Mircsof-Langouet Type
Blepharophimosis
Dysostosis	Dysostoses
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Mouth Disease	Mouth Diseases Mouth Disorders
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
Bone Squamous Cell Carcinoma
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Hematologic Cancer	Hematologic Neoplasm Hematologic Malignancies Hematologic Neoplasms Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Lateral Meningocele Syndrome	Lehman Syndrome Lms LMNS Meningocele, Lateral Syndrome
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer 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
Orofacial Cleft 4	OFC4 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 4 Nonsyndromic Cleft Lip With Or Without Cleft Palate 4
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma
Skin Disease	Skin Diseases Abnormality Of The Skin Skin Diseases, Genetic Genodermatosis Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Aortic Aneurysm	Aortic Rupture Thoracoabdominal Aortic Aneurysm, Ruptured Ruptured Aortic Aneurysm Aortic Aneurysms Aortic Aneurysm Without Mention Of Rupture Nos Ruptured Abdominal Aortic Aneurysm Aortic Aneurysm, Ruptured Ruptured Thoracic Aortic Aneurysm
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
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic 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
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Oliver Syndrome	Postaxial Polydactyly-Intellectual Disability Syndrome Postaxial Polydactyly And Mental Retardation
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
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
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
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Congenital Anomaly Of Heart Heart Defect Heart Malformation Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Tonsil Cancer	Tonsillar Neoplasms Malignant Neoplasm Of Faucial Tonsil Malignant Neoplasm Of Palatine Tonsil Malignant Neoplasm Of Tonsil, Faucial Malignant Tonsillar Tumor Malignant Tumor Of Tonsil Tonsillar Carcinoma Malignant Neoplasm Tonsil
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
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
Left Ventricular Noncompaction	Left Ventricular Hypertrabeculation Noncompaction Cardiomyopathy Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Hemangioma	Hemangiomas
Keratoacanthoma	Ka - [Keratoacanthoma] Well-Differentiated Squamous Cell Carcinoma
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
T-Cell Acute Lymphoblastic Leukemia	T-Cell Leukemia Acute T Cell Leukemia Precursor T Lymphoblastic Leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia T Acute Lymphoblastic Leukemia T-Cell Acute Lymphocytic Leukaemia T-Cell Lymphoblastic Leukemia/Lymphoma Leukemia T-Cell Leukemia, T-Cell Leukemia, Acute, Lymphoblastic, T-Cell Leukemia, T-Cell Acute Lymphoblastic Leukemia, Acute T-Cell Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Precursor T-Cell Lymphoblastic Lymphoma Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of 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 Cancer 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
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
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
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 Leukemia, Myeloid, Acute 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
Serotonin Syndrome	Serotonergic Syndrome Serotonin Storm Serotonin Toxicity Serotonin Toxidrome Malignant Carcinoid Syndrome
Desmoid Tumor	Aggressive Fibromatosis Desmoid Type Fibromatosis Familial Infiltrative Fibromatosis Desmoid Disorder, Hereditary Fif Fibromatosis, Familial Infiltrative Deep Fibromatosis Desmoid Fibromatosis Hereditary Desmoid Disease Musculoaponeurotic Fibromatosis Desmoid-Type Fibromatosis Fibromatosis, Aggressive Desmoid Disease, Hereditary Musculo-Aponeurotic Fibromatosis
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
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
Richter'S Syndrome	Richter Syndrome Richter Transformation
Actinic Keratosis	Solar Keratosis Actinic Keratosis Senile Hyperkeratosis Sk - Solar Keratosis Keratosis, Actinic Seborrheic Keratosis Ak - [Actinic Keratosis] Sk - [Solar Keratosis]
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Breast Carcinoma In Situ	Carcinoma In Situ Of Breast Non-Infiltrating Carcinoma Of Breast Breast Cancer In Situ
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Nasopharyngeal Carcinoma	Malignant Neoplasm Of Nasopharynx Npc Nasopharyngeal Cancer Nasopharyngeal Carcinoma 1 Nasopharynx Carcinoma Nasopharyngeal Neoplasms Npca Carcinoma Of Nasopharynx Malignant Nasopharyngeal Tumor Nasopharynx Cancer Squamous Cell Carcinoma Of The Nasopharynx Nasopharyngeal Neoplasm Cancer Of Nasopharynx
Leukodystrophy	Leukodystrophies
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
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
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
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Lymphoblastic Lymphoma	Lymphoma, Lymphoblastic Lymphoma Lymphoblastic Precursor Cell Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma
Spondylocostal Dysostosis	Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylothoracic Dysplasia Scdo Dysostosis, Spondylocostal
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Gastric Cancer	Stomach Cancer Stomach Carcinoma Gastric 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
Pre-Malignant Neoplasm
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Disease, Susceptibility To Coronary Artery Anomaly Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Carcinoid Tumors, Intestinal	Gastrointestinal Carcinoid Tumor Argentaffinoma Carcinoid Intestinal Carcinoid Tumor ICT Tumor, Carcinoid, Intestinal Malignant Carcinoid Syndrome Carcinoid Tumor Of Intestine Carcinoid Tumor Carcinoid Tumor No Icd-O Subtype
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Desmoplastic/Nodular Medulloblastoma Medulloblastoma With Extensive Nodularity Desmoplastic Medulloblastoma Medulloblastoma, Somatic Medulloblastoma, Desmoplastic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Mben Medulloblastoma Desmoplastic Neuroectodermal Tumors, Primitive Medulloblastomas Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Cardiovascular Organ Benign Neoplasm
Myeloma, Multiple	Multiple Myeloma Kahler Disease Myelomatosis Plasma Cell Myeloma Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler'S Disease Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Uterine Adnexa Cancer
Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Protection Against Lung Cancer, Susceptibility To Adenocarcinoma Of Lung, Somatic Nonsmall Cell Lung Cancer Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In 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
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Hajdu-Cheney Syndrome	Acroosteolysis With Osteoporosis And Changes In Skull And Mandible Cheney Syndrome Arthrodentoosteodysplasia HJCYS Serpentine Fibula-Polycystic Kidney Syndrome Sfpks Acroosteolysis Dominant Type Serpentine Fibula-Polycystic Kidneys Syndrome Arthro-Dento-Osteo Dysplasia Cranioskeletal Dysplasia With Acro-Osteolysis Familial Osteodysplasia Hereditary Osteodysplasia With Acro-Osteolysis Hcs Serpentine Fibula Syndrome Acro-Osteolysis Serpentine Fibula Polycystic Kidney Syndrome
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Aplasia Cutis Congenita	Aplasia Cutis Congenita Of Limbs Recessive Congenital Absence Of Skin On The Upper Or Lower Limbs Recessive Aplasia Cutis Congenita Of The Limbs Aplasia Cutis Congenita Nonsyndromic Congenital Defect Of Skull And Scalp Scalp Defect Congenital
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
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
Brain Cancer	Malignant Neoplasm Of Brain Adult Brain Tumor 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
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Precursor T-Cell Acute Lymphoblastic Leukemia	T-All Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor T-Cell Acute Lymphocytic Leukemia Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Adult T-Cell Lymphoma/Leukemia
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
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
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Adenocarcinoma	Adenocarcinomas Adenoacanthoma Of Unspecified Site Adenocarcinoid Of Unspecified Site Adenocarcinoid Tumour Of Unspecified Site Adenocarcinoma And Carcinoid Combined Of Unspecified Site Adenocarcinoma Nos
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Skin Papilloma	Cutaneous Papilloma Papilloma Of Skin Papilloma Skin
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
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-10585	Valproic acid	99.90%	Unkown
HY-10585A	Valproic acid sodium	99.65%	Unkown
HY-10585AR	Valproic acid sodium (Standard)	98.92%	Unkown
HY-10585B	Valproic acid sodium (2:1)	/	Unkown

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-N0711	Carvacrol		99.98%	Phase 3
HY-15670	BMS-906024	Inhibitor	99.91%	Phase 1
HY-12860	BMS-986115	Inhibitor	99.90%	Phase 1

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99258	Brontictuzumab	Inhibitor	95.00%	Phase 1
HY-P991423	MEDI0639	Inhibitor	98.78%	Phase 1

Pre-clinical Phase

Bioactive Molecules (40)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13027	DAPT		99.97%	Unkown
HY-N0133	Tangeretin		99.36%	Unkown
HY-134978A	(+)SHIN2	Inhibitor	99.30%	Unkown
HY-N0232	Psoralidin		99.90%	Unkown
HY-124284	Hexamethylene bisacetamide		99.56%	Unkown
HY-N5112B	β,β-Dimethylacrylshikonin		99.30%	Unkown
HY-14174	MRK-560	Inhibitor	99.92%	Unkown
HY-10585R	Valproic acid (Standard)		99.97%	Unkown
HY-164404	NADI-351	Inhibitor	99.83%	Unkown
HY-10585S2	Valproic acid-d15		99.80%	Unkown
HY-N1510	Kaempferol 3-O-gentiobioside	Inhibitor	99.88%	Unkown
HY-10585S1	Valproic acid-d6		99.83%	Unkown
HY-144899	ASR-490	Inhibitor	99.20%	Unkown
HY-10585S	Valproic acid-d4		98.0%	Unkown
HY-12465	Z-Ile-Leu-aldehyde		97.0%	Unkown
HY-N11709	Theasaponin E1		98.68%	Unkown
HY-N2896	Arjunolic acid		98.83%	Unkown
HY-10585S4	Valproic acid-d4-1		99.5%	Unkown
HY-P1985	Notch 1		95.39%	Unkown
HY-10585AS1	Valproic acid-d14 sodium		96.73%	Unkown
HY-164466	CAD204520	Inhibitor	99.22%	Unkown
HY-164466A	CAD204520 dihydrochloride	Inhibitor	99.26%	Unkown
HY-P1985A	Notch 1 TFA		/	Unkown
HY-RS09445	NOTCH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-141876	PRT543		/	Unkown
HY-183626	PAI-1-IN-1		99.45%	Unkown
HY-10585AS	Valproic acid-d7 sodium		/	Unkown
HY-103539	3,5-Bis(4-nitrophenoxy)benzoic acid	Inhibitor	98.50%	Unkown
HY-10585AG	Valproic acid sodium (GMP)		/	Unkown
HY-10585S3	Valproic acid-d4 sodium		/	Unkown
HY-118900	CP-654577		/	Unkown
HY-120372	BMS-871	Inhibitor	/	Unkown
HY-181975	ATOX1-IN-1	Inhibitor	/	Unkown
HY-E70178	Protein O-Glucosyltransferase 1		/	Unkown
HY-N9790	Procyanidin B2 3,3'-di-O-gallate	Inhibitor	/	Unkown
HY-RS09446	Notch1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09447	Notch1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W794759	Valproic acid magnesium		/	Unkown
HY-N12768	Rhodojaponin VI	Inhibitor	/	Unkown
HY-W714200	Neburon		/	Unkown

Inhibitory Antibodies (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991328	MAb604.107	Inhibitor	/	Unkown
HY-P992275	Anti-Nicastrin Antibody (A5226A)	Inhibitor	/	Unkown
HY-P990476	Anti-NOTCH1 Antibody	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NOTCH1	VGNC	VGNC:68519
Bos taurus	NOTCH1	VGNC	VGNC:32177
Canis familiaris	NOTCH1	VGNC	VGNC:43898
Macaca mulatta	NOTCH1	VGNC	VGNC:75371
Rattus norvegicus	NOTCH1	RGD	RGD:3187
Mus musculus	NOTCH1	MGD	MGI:97363
Others	NOTCH1	NCBI