Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arteriovenous malformations of the brain | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral arteriovenous malformation | ClinVar | PMID:25741868 and PMID:27231971 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hirschsprung's disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | syndromic microphthalmia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:26893459 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - KEGG (archival)
Imported Annotations - PID (archival)
Phenotype Annotations Click to see Annotation Detail View
Manual Human Phenotype Annotations - RGD
Imported Human Phenotype Annotations - ClinVar
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genetic association of sequence variants near AGER/NOTCH4 and dementia. | Bennet AM, etal., J Alzheimers Dis. 2011;24(3):475-84. |
| 2. | Novel cell culture technique for primary ductal carcinoma in situ: role of Notch and epidermal growth factor receptor signaling pathways. | Farnie G, etal., J Natl Cancer Inst. 2007 Apr 18;99(8):616-27. |
| 3. | Cell and molecular biology of Notch. | Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74. |
| 4. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 5. | Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. | Gorlova O, etal., PLoS Genet. 2011 Jul;7(7):e1002178. Epub 2011 Jul 14. |
| 6. | Expression analysis of Notch-related molecules in peripheral blood T helper cells of patients with rheumatoid arthritis. | Jiao Z, etal., Scand J Rheumatol. 2010;39(1):26-32. |
| 7. | NOTCH4 gene haplotype is associated with schizophrenia in African Americans. | Luo X, etal., Biol Psychiatry 2004 Jan 15;55(2):112-7. |
| 8. | SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients. | McElroy JP, etal., Genes Immun. 2011 Oct;12(7):523-30. doi: 10.1038/gene.2011.25. Epub 2011 Jun 9. |
| 9. | Endothelial Notch signaling is upregulated in human brain arteriovenous malformations and a mouse model of the disease. | Murphy PA, etal., Lab Invest. 2009 Sep;89(9):971-82. Epub 2009 Jun 22. |
| 10. | Activation of multiple angiogenic signaling pathways in hemangiopericytoma. | Pierscianek D, etal., Brain Tumor Pathol. 2016 Jul;33(3):200-8. doi: 10.1007/s10014-016-0256-6. Epub 2016 Mar 7. |
| 11. | Study of angiogenic signaling pathways in hemangioblastoma. | Pierscianek D, etal., Neuropathology. 2017 Feb;37(1):3-11. doi: 10.1111/neup.12316. Epub 2016 Jul 7. |
| 12. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 13. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 14. | Impaired Notch4 activity elicits endothelial cell activation and apoptosis: implication for transplant arteriosclerosis. | Quillard T, etal., Arterioscler Thromb Vasc Biol. 2008 Dec;28(12):2258-65. Epub 2008 Sep 18. |
| 15. | Mammary development and tumorigenesis in mice expressing a truncated human Notch4/Int3 intracellular domain (h-Int3sh). | Raafat A, etal., Oncogene. 2004 Dec 16;23(58):9401-7. |
| 16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 18. | Insertional mutation of int protooncogenes in the mammary tumors of a new strain of mice derived from the wild in China: normal- and tumor-tissue-specific expression of int-3 transcripts. | Sarkar NH, etal., Virology. 1994 Aug 15;203(1):52-62. |
| 19. | Activation of Notch signaling pathway in HIV-associated nephropathy. | Sharma M, etal., AIDS. 2010 Sep 10;24(14):2161-70. |
| 20. | Imbalanced expression of TAN-1 and human Notch4 in endometrial cancers. | Suzuki T, etal., Int J Oncol. 2000 Dec;17(6):1131-9. |
| 21. | Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata. | Tazi-Ahnini R, etal., Hum Genet. 2003 Apr;112(4):400-3. Epub 2003 Feb 14. |
| 22. | Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population. | Tochigi M, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):37-40. |
| 23. | Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. | Valdes AM and Thomson G, Diabetes Obes Metab. 2009 Feb;11 Suppl 1:46-52. |
| 24. | A review and re-evaluation of an association between the NOTCH4 locus and schizophrenia. | Wang Z, etal., Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):902-6. |
Additional References at PubMed
| PMID:7671825 | PMID:7835890 | PMID:8681805 | PMID:9168133 | PMID:9576833 | PMID:9693032 | PMID:10079256 | PMID:10221902 | PMID:10645000 | PMID:10932176 | PMID:11101851 | PMID:11112321 |
| PMID:11119607 | PMID:11239712 | PMID:11381257 | PMID:11381258 | PMID:11407996 | PMID:11518718 | PMID:11532344 | PMID:11585921 | PMID:11803454 | PMID:11823422 | PMID:11836628 | PMID:11901359 |
| PMID:11909975 | PMID:12370315 | PMID:12477932 | PMID:12496471 | PMID:12605097 | PMID:12627456 | PMID:12782960 | PMID:12814948 | PMID:12873802 | PMID:14651518 | PMID:14701863 | PMID:14730600 |
| PMID:14961038 | PMID:14966150 | PMID:15009827 | PMID:15091315 | PMID:15115916 | PMID:15187023 | PMID:15653273 | PMID:15684396 | PMID:16007227 | PMID:16378929 | PMID:16538185 | PMID:16969274 |
| PMID:17054719 | PMID:17192952 | PMID:17452726 | PMID:17496152 | PMID:17696940 | PMID:17822320 | PMID:17920003 | PMID:17984306 | PMID:18184405 | PMID:18239137 | PMID:18583979 | PMID:18593923 |
| PMID:18663143 | PMID:19116923 | PMID:19143821 | PMID:19156168 | PMID:19242354 | PMID:19404845 | PMID:19503073 | PMID:19571808 | PMID:19659809 | PMID:19851445 | PMID:20041166 | PMID:20068161 |
| PMID:20069356 | PMID:20331378 | PMID:20444726 | PMID:20554499 | PMID:20587610 | PMID:20596622 | PMID:20602615 | PMID:20643108 | PMID:20673877 | PMID:20832056 | PMID:21045140 | PMID:21085055 |
| PMID:21124806 | PMID:21159651 | PMID:21203870 | PMID:21402876 | PMID:21408207 | PMID:21602525 | PMID:21679465 | PMID:21726900 | PMID:21804548 | PMID:21864059 | PMID:21873635 | PMID:22001063 |
| PMID:22066479 | PMID:22084425 | PMID:22488909 | PMID:22641179 | PMID:22694956 | PMID:22732452 | PMID:23015403 | PMID:23028341 | PMID:23212060 | PMID:23237809 | PMID:23251661 | PMID:23266558 |
| PMID:23318300 | PMID:23326239 | PMID:23444212 | PMID:23450325 | PMID:23535732 | PMID:23549433 | PMID:23566281 | PMID:23576639 | PMID:23583980 | PMID:23587900 | PMID:23620142 | PMID:23742774 |
| PMID:23749167 | PMID:23894747 | PMID:24151014 | PMID:24305720 | PMID:24373503 | PMID:24403446 | PMID:24837172 | PMID:24919951 | PMID:24962563 | PMID:25030430 | PMID:25031748 | PMID:25053477 |
| PMID:25142293 | PMID:25511451 | PMID:25529856 | PMID:25663545 | PMID:25740432 | PMID:25845235 | PMID:25846406 | PMID:26341090 | PMID:26387946 | PMID:26472724 | PMID:26530164 | PMID:26605328 |
| PMID:27069008 | PMID:27118257 | PMID:27197026 | PMID:27231971 | PMID:27234159 | PMID:27431799 | PMID:27829420 | PMID:28061457 | PMID:28374086 | PMID:28871079 | PMID:29058285 | PMID:29101237 |
| PMID:29146722 | PMID:29162408 | PMID:29693251 | PMID:31605414 | PMID:31838262 | PMID:32646407 | PMID:32814053 | PMID:32900838 | PMID:32960812 | PMID:33000281 | PMID:33491747 | PMID:33915108 |
| PMID:33991537 | PMID:34284787 | PMID:34785669 | PMID:34925319 | PMID:35543859 | PMID:35906200 | PMID:35967450 | PMID:36044575 | PMID:36724752 | PMID:36817473 | PMID:37268635 | PMID:37478314 |
| PMID:37544578 | PMID:37704626 |
Genomics
Comparative Map Data
| NOTCH4 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Notch4 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Notch4 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Notch4 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NOTCH4 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NOTCH4 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Notch4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NOTCH4 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NOTCH4 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Notch4 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in NOTCH4
188 total Variants 
|
