NOTCH3 - notch receptor 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4854

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in positive regulation of miRNA transcription IMP
IMP: Inferred from mutant phenotype
25323858 GOA
Cellular Component GO Annotation Evidence References 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 References
Intra
NOTCH3 Q9UM47 NOTCH3 Homo sapiens Q9UM47 26051713
Intra
NOTCH3 Q9UM47 NOTCH3 Homo sapiens Q9UM47 26051713
Cross
NOTCH3 Q9UM47 Psma1 Mus musculus Q9R1P4 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 Notch 3 Protein, Human (HEK293, Fc) Q9UM47 (A40-E467) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P78010 Notch 3 Protein, Human (HEK293, His-Avi) Q9UM47 (A40-E467) ≥ 95%, as determined by Bis-Tris PAGE.
HY-P700803 Notch 3 Protein, Human (Biotinylated, HEK293, His-Avi) Q9UM47 (A40-E467) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700804 Notch 3 Protein, Human (HEK293, C-His-Avi) Q9UM47 (A1378-S1640) ≥ 95%, as determined by reducing SDS-PAGE.

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