JAG1 - jagged canonical Notch ligand 1 Gene

Also Known as AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 182

About JAG1

Cytogenetic location: 20p12.2 Genomic coordinates (GRCh38): 20:10,637,684-10,673,999 (from NCBI)

This gene has 9 transcripts (splice variants), 174 orthologues, 5 paralogues and is associated with 8 phenotypes. Ubiquitous expression in placenta (RPKM 27.7), skin (RPKM 22.8) and 24 other tissues.

Summary

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor Notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through Notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]

JAG1 Products (1)

mRNA Protein Name
NM_000214.3 NP_000205.1 protein jagged-1 precursor
Molecular Function GO Annotation Evidence References Source
enables Notch binding IPI
IPI: Inferred from physical interaction
11006133 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
16427310 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
16427310 GOA
enables phospholipid binding IMP
IMP: Inferred from mutant phenotype
22465068 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18660822 GOA
Biological Process GO Annotation Evidence References Source
involved in Notch signaling pathway IMP
IMP: Inferred from mutant phenotype
9207787 GOA
involved in T cell mediated immunity IMP
IMP: Inferred from mutant phenotype
23086448 GOA
involved in negative regulation of cell migration IDA
IDA: Inferred from direct assay
11549580 GOA
involved in negative regulation of cell-cell adhesion IDA
IDA: Inferred from direct assay
11549580 GOA
involved in negative regulation of cell-matrix adhesion IDA
IDA: Inferred from direct assay
11549580 GOA
involved in negative regulation of stem cell differentiation IMP
IMP: Inferred from mutant phenotype
19682396 GOA
involved in neuronal stem cell population maintenance IEP
IEP: Inferred from expression pattern
19682396 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
20437614 GOA
involved in pulmonary artery morphogenesis IMP
IMP: Inferred from mutant phenotype
9207787 GOA
involved in pulmonary valve morphogenesis IMP
IMP: Inferred from mutant phenotype
9207787 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with membrane IMP
IMP: Inferred from mutant phenotype
22465068 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
20437614 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

JAG1 Protein Structure

MNNL

MNNL: N terminus of Notch ligand (31 - 110)

DSL

DSL: Delta serrate ligand (167 - 229)

EGF

EGF: EGF-like domain (300 - 332)

EGF

EGF: EGF-like domain (340 - 370)

EGF

EGF: EGF-like domain (378 - 408)

EGF_CA

EGF_CA: Calcium-binding EGF domain (412 - 445)

EGF

EGF: EGF-like domain (447 - 483)

EGF

EGF: EGF-like domain (491 - 519)

EGF

EGF: EGF-like domain (529 - 559)

EGF

EGF: EGF-like domain (633 - 662)

EGF

EGF: EGF-like domain (671 - 701)

EGF

EGF: EGF-like domain (748 - 777)

EGF

EGF: EGF-like domain (786 - 815)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1218 a.a.
Protein Preferred Names Protein Names

protein jagged-1

JAG1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JAG1 P78504 CD46 Homo sapiens P15529 23086448
Intra
JAG1 P78504 CD46 Homo sapiens P15529
SPR
23086448
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant JAG1 Proteins

Cat. No. Product Name Accession Purity
HY-P70399 Jagged-1/JAG1 Protein, Human (HEK293, Fc) P78504-1 (Q34-S1046) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P73258 Jagged-1/JAG1 Protein, Human (HEK293, His) P78504-1/NP_000205.1 (Q34-S1046) ≥ 95%, as determined by reducing SDS-PAGE.

JAG1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80195 Jagged1 Antibody (YA332) WB, IHC-P Human, Mouse, Rat
HY-P83346 Jagged1 Antibody (YA3091) WB, IHC-P Human
HY-P84438 Jagged1 Antibody (YA4135) WB, FC, ELISA Human
HY-P84438A Jagged1 Antibody (YA4135)(PBS only) WB, FC, ELISA Human

Related Diseases

Diseases Alias
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

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]

Deafness, Congenital Heart Defects, And Posterior Embryotoxon
  • DCHE

  • Deafness, Congenital Heart Defects, Posterior Embryotoxon

Charcot-Marie-Tooth Disease, Axonal, Type 2hh
  • CMT2HH

  • Charcot-Marie-Tooth Neuropathy, Type 2hh

  • Charcot-Marie-Tooth Disease 2hh

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Heart, Malformation Of
Atypical Coarctation Of Aorta
  • Middle Aortic Syndrome

  • Coarctation Of The Abdominal Aorta

  • Mid-Aortic Dysplastic Syndrome

  • Mid-Aortic Syndrome

  • Midaortic Syndrome

  • Takayasu Arteritis

Pulmonic Stenosis
  • Valvular Pulmonic Stenosis

  • Congenital Pulmonary Valvar Stenosis

  • Congenital Stenosis Of Pulmonary Valve

  • Pulmonary Valve Stenosis

  • Pulmonary Stenosis

  • Congenital Pulmonary Valve Stricture

  • Congenital Pulmonary Valve Stenosis

Cholestasis, Progressive Familial Intrahepatic, 3
  • PFIC3

  • Cholestasis, Progressive Familial Intrahepatic 3

  • Mdr3 Deficiency

  • Progressive Familial Intrahepatic Cholestasis Type 3

  • Progressive Familial Intrahepatic Cholestasis 3

  • Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase

  • Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase

  • Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase

  • Cholestasis, Intrahepatic, Familial, Progressive, Type 3

Pulmonary Valve Stenosis
  • Valvular Pulmonary Stenosis

  • Heart Valve Pulmonary Stenosis

  • Valvar Pulmonary Stenosis

  • Valvate Pulmonary Stenosis

  • Pulmonary Stenosis

  • Pulmonary Valve Stricture

  • Pulmonic Valve Stenosis

  • Ps - [Pulmonary Valve Stenosis]

  • Pvs - [Pulmonary Valve Stenosis]

  • Pulmonary Valvular Stricture

  • Pulmonary Valvular Stenosis

  • Pulmonary Valvular Obstruction

  • Pulmonary Valve Obstruction

  • Obstructed Pulmonary Valve

Cholestasis
  • Obstruction Of Bile Duct

  • Bile Duct Obstruction

  • Bile Occlusion

  • Extrahepatic Biliary Obstruction

  • Extrahepatic Bile Duct Obstruction

  • Bile Stasis

  • Biliary Stasis

  • Obstructive Hyperbilirubinemia

  • Obstructed Jaundice

  • Bile Duct Obstructed

  • Bile Ductal Obstruction

  • Biliary Duct Obstruction

  • Obstructed Bile Ductal

  • Obstructed Biliary Duct

  • Obstructed Biliary Ductal

  • Jaundice Regurgitation

  • Obstructive Jaundice

  • Cholestatic Jaundice

  • Cholestatic Jaundice Syndrome

Aortic Aneurysm, Familial Thoracic 4
  • AAT4

  • Faa4

  • Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus

  • Familial Aortic Aneurysm 4

  • Non-Syndromic Thoracic Aortic Aneurysms And Dissection

  • Taad

  • Thoracic Aortic Aneurysms And Dissection

  • Thoracic Aortic Aneurysms And Dissections

  • Aneurysm, Aortic, Thoracic, Familial, Type 4

Intrahepatic Cholestasis
  • Cholestasis, Intrahepatic

  • Neonatal Intrahepatic Cholestasis

  • Cholestasis Intrahepatic

  • Cholestasis Of Pregnancy

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

Cholestasis, Progressive Familial Intrahepatic, 1
  • PFIC1

  • Byler Disease

  • Cholestasis, Progressive Familial Intrahepatic 1

  • Progressive Familial Intrahepatic Cholestasis 1

  • Progressive Familial Intrahepatic Cholestasis Type 1

  • Fic1 Deficiency

  • Byler'S Disease

  • Cholestasis, Fatal Intrahepatic

  • Progressive Familial Intrahepatic Cholestasis

  • Severe Atp8b1 Deficiency

  • Fatal Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic, Familial, Progressive, Type 1

  • Progressive Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic 3

Ventricular Septal Defect
  • Ventricular Septal Defects

  • Interventricular Septal Defect

  • Heart Septal Defects, Ventricular

  • Ventricular Septal Abnormality

  • Interventricular Septum Defect

  • Ventricular Septum Defect

  • Vsd - [Ventricular Septum Defect]

  • Congenital Ventricular Septal Defect

  • Single Ventricular Septal Defect

Biliary Atresia, Extrahepatic
  • EHBA

  • Extrahepatic Biliary Atresia

  • Biliary Atresia

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

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

Biliary Atresia
  • Congenital Biliary Atresia

  • Isolated Biliary Atresia

  • Isolated Atresia Of Bile Ducts

  • Non-Syndromic Biliary Atresia

  • Atresia Of Bile Duct

  • Biliary Atresia, Congenital

  • Atresia Of Bile Ducts

  • Bile Duct Atresia

  • Congenital Bile Duct Atresia

  • Ba - [Biliary Atresia]

  • Impervious Bile Duct

  • Atresia Of Common Duct

  • Biliary Duct Atresia

  • Bile Ductal Atresia

  • Cystic Duct Atresia

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

Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
  • GDACCF

  • Developmental Disabilities

Neonatal Jaundice
  • Neonatal Hyperbilirubinemia

  • Neonatal Icterus

  • Jaundice Neonatal

  • Jaundice, Neonatal

  • Hyperbilirubinemia, Neonatal

Root Resorption
Cone-Rod Dystrophy 19
  • CORD19

  • Dystrophy, Cone-Rod, Type 19

Wolff-Parkinson-White Syndrome
  • Wolff-Parkinson-White Pattern

  • Wpw Syndrome

  • Anomalous Atrioventricular Excitation

  • Anomalous A-V Excitation

  • Ventricular Pre-Excitation With Arrhythmia

  • WPWS

  • Ventricular Familial Preexcitation Syndrome

  • Preexcitation Syndrome

  • Ventricular Preexcitation

  • Wpw - [Wolff-Parkinson- White] Syndrome

  • Pre-Excitation Syndrome

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

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Hemangioma
  • Hemangiomas

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

Spondylocostal Dysostosis
  • Jarcho-Levin Syndrome

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylothoracic Dysplasia

  • Scdo

  • Dysostosis, Spondylocostal

Cervical Squamous Cell Carcinoma
  • Squamous Cell Carcinoma Of The Cervix Uteri

  • Squamous Cell Carcinoma Of Cervix

Cholangitis, Primary Sclerosing
  • Primary Sclerosing Cholangitis

  • PSC

  • Sclerosing Cholangitis

  • Cholangitis, Sclerosing

  • Cholangitis Primary Sclerosing

  • Psc - [Primary Sclerosing Cholangitis]

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

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

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Dilated Cardiomyopathy 1t
  • Cmd1t

  • Cardiomyopathy, Dilated, 1t

Heart Septal Defect
  • Septal Defect

  • Heart Septal Defects

  • Cardiac Septal Defects

  • Congenital Septal Defect Of Heart

Multiple Sclerosis
  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord

Progressive Familial Intrahepatic Cholestasis
  • Abcb4-Related Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic

  • Pfic

  • Byler Disease

  • Abcb11-Related Intrahepatic Cholestasis

  • Atp8b1-Related Intrahepatic Cholestasis

  • Bsep Deficiency

  • Byler Disease

  • Byler Syndrome

  • Fic1 Deficiency

  • Low Γ-Gt Familial Intrahepatic Cholestasis

  • Mdr3 Deficiency

  • Pfic

  • Cholestasis, Intrahepatic, Familial, Progressive

  • Pfic - [Progressive Familial Intrahepatic Cholestasis]

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

Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

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

Spinocerebellar Ataxia 44
  • SCA44

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

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

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

Scoliosis
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

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

Moyamoya Disease 1
  • Moyamoya Disease

  • Spontaneous Occlusion Of The Circle Of Willis

  • Mymy

  • Progressive Intracranial Arterial Occlusion

  • Moyamoya Syndrome

  • MYMY1

  • Cerebrovascular Moyamoya Disease

  • Moya-Moya Disease

  • Progressive Intracranial Occlusive Arteropathy

  • Idiopathic Moyamoya Disease

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

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

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

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • 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

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

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

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

Orthologs Information

Species Symbol Source ID
Mus musculus JAG1 MGD MGI:1095416
Bos taurus JAG1 VGNC VGNC:30361
Macaca mulatta JAG1 VGNC VGNC:73808
Felis catus JAG1 VGNC VGNC:67874
Canis familiaris JAG1 VGNC VGNC:42172
Rattus norvegicus JAG1 RGD RGD:2937
Others JAG1 NCBI