1. Gene
  2. NOTCH3 - notch receptor 3 Gene

NOTCH3 - notch receptor 3 Gene

Homo sapiens

Also known as IMF2; LMNS; CASIL; CADASIL; CADASIL1

Gene ID: 4854 | Gene type: protein coding

About NOTCH3

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:15,159,038-15,200,995 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues, 7 paralogues and is associated with 8 phenotypes. Broad expression in fat (RPKM 35.4), placenta (RPKM 33.8) and 22 other tissues.

Summary

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein Notch. In Drosophilia, Notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human Notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]

NOTCH3 Products(1)

mRNA Protein Name
NM_000435.3 NP_000426.2 neurogenic locus notch homolog protein 3 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
26051713 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11006133 GOA
enables signaling receptor activity IMP
IMP: Inferred from mutant phenotype
15350543 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of miRNA transcription IMP
IMP: Inferred from mutant phenotype
25323858 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
15350543 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

NOTCH3 Protein Structure

EGF

EGF: EGF-like domain (43 - 75)

EGF

EGF: EGF-like domain (123 - 153)

EGF_CA

EGF_CA: Calcium-binding EGF domain (158 - 190)

EGF

EGF: EGF-like domain (240 - 269)

EGF_CA

EGF_CA: Calcium-binding EGF domain (274 - 307)

EGF

EGF: EGF-like domain (355 - 385)

EGF_CA

EGF_CA: Calcium-binding EGF domain (391 - 424)

EGF_CA

EGF_CA: Calcium-binding EGF domain (431 - 462)

EGF

EGF: EGF-like domain (473 - 502)

EGF

EGF: EGF-like domain (511 - 539)

EGF

EGF: EGF-like domain (549 - 577)

EGF

EGF: EGF-like domain (586 - 614)

hEGF

hEGF: Human growth factor-like EGF (643 - 654)

EGF

EGF: EGF-like domain (699 - 728)

EGF

EGF: EGF-like domain (775 - 806)

EGF_CA

EGF_CA: Calcium-binding EGF domain (810 - 842)

EGF

EGF: EGF-like domain (853 - 883)

EGF

EGF: EGF-like domain (928 - 958)

EGF

EGF: EGF-like domain (1004 - 1031)

EGF

EGF: EGF-like domain (1055 - 1080)

hEGF

hEGF: Human growth factor-like EGF (1107 - 1119)

EGF

EGF: EGF-like domain (1126 - 1151)

EGF

EGF: EGF-like domain (1175 - 1201)

EGF

EGF: EGF-like domain (1339 - 1371)

Notch

Notch: LNR domain (1383 - 1418)

Notch

Notch: LNR domain (1424 - 1459)

Notch

Notch: LNR domain (1465 - 1500)

NOD

NOD: NOTCH protein (1505 - 1560)

NODP

NODP: NOTCH protein (1576 - 1640)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1820 - 1900)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1910 - 2000)

DUF3454

DUF3454: Domain of unknown function (DUF3454) (2225 - 2275)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2321 a.a.
Protein Preferred Names Protein Names

neurogenic locus notch homolog protein 3

Notch homolog 3

NOTCH3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NOTCH3 Q9UM47 NOTCH3 Homo sapiens Q9UM47
X-Ray Diffraction
26051713
Intra
NOTCH3 Q9UM47 NOTCH3 Homo sapiens Q9UM47
Solution Sedimentation
26051713
Cross
NOTCH3 Q9UM47 Psma1 Mus musculus Q9R1P4
Anti Tag CoIP
17292860
Cross
NOTCH3 Q9UM47 Psma1 Mus musculus Q9R1P4
Y2H
17292860
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NOTCH3 Proteins

Cat. No. Product Name Accession Purity
HY-P78009 Notch3 Protein, Human (HEK293, Fc) Q9UM47 (A40-E467) ≥95%
HY-P78010 Notch 3 Protein, Human (HEK293, His-Avi) Q9UM47 (A40-E467) ≥95%
HY-P700803 Notch 3 Protein, Human (Biotinylated, HEK293, His-Avi) Q9UM47 (A40-E467) ≥95%
HY-P700804 Notch 3 Protein, Human (HEK293, C-His-Avi) Q9UM47 (A1378-S1640) ≥95%

Related Diseases

Diseases Alias
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

Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome

Myofibromatosis, Infantile, 2

IMF2

Myofibromatosis, Infantile 2

Myofibromatosis, Infantile, Type 2

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

Transient Cerebral Ischemia

Transient Ischemic Attack

Transient Ischemic Attacks

Tia

Tia - Transient Ischaemic Attack

Transient Cerebral Ischaemia

Ischemic Attack, Transient

Intermittent Cerebral Ischemia

Tia - [Transient Ischaemic Attack]

Intermittent Cerebral Ischaemia

Transient Cerebral Ischaemic Attack, Unspecified, Course Of Resolution Unspecified

Mental Depression

Depression

Depressive Disorder

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Meningocele

Isolated Spina Bifida

Spina Bifida

Cleft Spine

Open Spine

Rachischisis

Spinal Dysraphism

Spinal Meningocele

Congenital Meningocele

Cerebrovascular Disease

Cerebrovascular Disorder

Cerebrovascular Accident

Cerebrovascular Disorders

Cva

Stroke

Migraine Without Aura

Common Migraine

Migraine With Or Without Aura, Susceptibility To

Migraine Without Aura, Susceptibility To

Acute Migraine Without Aura

Pseudobulbar Palsy

Pseudobulbar Paralysis

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Myofibroma

Lipoleiomyoma

Uterine Fibroids

Solitary Myofibromatosis

Myolipoma

Sneddon Syndrome

Livedo Reticularis And Cerebrovascular Accidents

SNDNS

Ehrmann-Sneddon Syndrome

Livedo Racemosa-Cerebrovascular Accident Syndrome

Livedo Reticularis-Cerebrovascular Accident Syndrome

Sneddon'S Syndrome

Idiopathic Livedo Reticularis With Systemic Involvement

Cerebro-Vascular Lesions And Livedo Reticularis

Livedo Racemosa And Cerebrovascular Accidents

Binswanger'S Disease

Multi-Infarct Dementia

Dementia Multi-Infarct

Binswanger Disease

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage

Col4a1-Related Familial Vascular Leukoencephalopathy

Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy

Brain Small Vessel Disease With Axenfeld-Riegar Anomaly

Brain Small Vessel Disease With Hemorrhage

Brain Small Vessel Disease With Or Without Ocular Anomalies

Bsvd1

Infantile Hemiparesis

Leukoencephalopathy With Axenfeld-Riegar Anomaly

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Brain Small Vessel Disease
Telecanthus
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

Transient Global Amnesia

Amnesia, Transient Global

Leukodystrophy

Leukodystrophies

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

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

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

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Hemangioma

Hemangiomas

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

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

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

Porencephaly
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids

Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Alsp

Gpsc

Subcortical Gliosis Of Neumann

Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1

Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids

Hdls

HDLS1

Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia

Gliosis, Familial Progressive Subcortical

Leukoencephalopathy, Diffuse Hereditary, With Spheroids

Pold

Pigmentary Orthochromatic Leukodystrophy

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Familial Progressive Subcortical Gliosis

Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant

Dementia, Familial, Neumann Type

Adult-Onset Leukodystrophy With Neuroaxonal Spheroids

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Neuroaxonal Leukodystrophy

Fpsg

Familial Dementia, Neumann Type

Familial Dementia Neumann Type

Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Spondylosis

Lumbar Spondylosis With Myelopathy

Lumbosacral Spondylosis Without Myelopathy

Spondylogenic Compression Of Lumbar Spinal Cord

Spondylogenic Compression Of Thoracic Spinal Cord

Spondylosis With Myelopathy

Thoracic Or Lumbar Spondylosis With Myelopathy

Arteriolosclerosis
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

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

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Myopathy

Muscular Diseases

Myopathies

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

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

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Rhabdomyosarcoma
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

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

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

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Bos taurus NOTCH3 VGNC VGNC:32178
Rattus norvegicus NOTCH3 RGD RGD:620761
Mus musculus NOTCH3 MGD MGI:99460
Felis catus NOTCH3 VGNC VGNC:80641
Canis familiaris NOTCH3 VGNC VGNC:43899
Others NOTCH3 NCBI