Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Add1 | Rat | cherubism | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrous dysplasia of jaw | ClinVar | PMID:28492532 | Add1 | Rat | Ellis-Van Creveld syndrome | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar | PMID:17024374 more ... | Add1 | Rat | essential hypertension | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertension more ... | ClinVar | PMID:10024330 more ... | Add1 | Rat | fetal akinesia deformation sequence syndrome 1 | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:16794080 more ... | Add1 | Rat | Tracheoesophageal Fistula | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tracheoesophageal fistula | ClinVar | PMID:32641753 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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 - GAD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | The genetic association database. | Becker KG, etal., Nat Genet. 2004 May;36(5):431-2. |
| 2. | Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. | Beeks E, etal., Am J Hypertens. 2001 Dec;14(12):1185-90. |
| 3. | The glutamate transporter excitatory amino acid carrier 1 associates with the actin-binding protein alpha-adducin. | Bianchi MG, etal., Neuroscience. 2010 Aug 25;169(2):584-95. Epub 2010 May 20. |
| 4. | Single nucleotide polymorphisms in genes of circulatory homeostasis in surviving pediatric intensive care patients with meningococcal infection. | Bunker-Wiersma HE, etal., Pediatr Crit Care Med. 2008 Sep;9(5):517-23. |
| 5. | Role of rat alpha adducin in angiogenesis: null effect of the F316Y polymorphism. | Cappuzzello C, etal., Cardiovasc Res. 2007 Aug 1;75(3):608-17. Epub 2007 May 4. |
| 6. | Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. | Cusi D, etal., Lancet. 1997 May 10;349(9062):1353-7. |
| 7. | 35H, a sequence isolated as a protein kinase C binding protein, is a novel member of the adducin family. | Dong L, etal., J Biol Chem 1995 Oct 27;270(43):25534-40. |
| 8. | Gene expression in chorionic villous samples at 11 weeks of gestation in women who develop preeclampsia later in pregnancy: implications for screening. | Farina A, etal., Prenat Diagn. 2009 Nov;29(11):1038-44. |
| 9. | alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. | Ferrandi M, etal., J Mol Med (Berl). 2010 Feb;88(2):203-17. Epub 2009 Oct 17. |
| 10. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 11. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 12. | Identification of the cytoskeletal regulatory protein alpha-adducin as a target of T cell receptor signaling. | Lu Q, etal., Mol Immunol. 2004 Jun;41(4):435-47. |
| 13. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 14. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | Spatial and sub-cellular localization of the membrane cytoskeleton-associated protein alpha-adducin in the rat brain. | Seidel B, etal., Brain Res. 1995 Nov 27;700(1-2):13-24. |
| 18. | Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. | Shaw GM, etal., Am J Med Genet A. 2005 Sep 15;138(1):21-6. |
| 19. | Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. | Torfs CP, etal., Birth Defects Res A Clin Mol Teratol. 2006 Oct;76(10):723-30. |
| 20. | alpha-Adducin mutations increase Na/K pump activity in renal cells by affecting constitutive endocytosis: implications for tubular Na reabsorption. | Torielli L, etal., Am J Physiol Renal Physiol. 2008 Aug;295(2):F478-87. Epub 2008 Jun 4. |
| 21. | Effect of Add1 gene transfer on blood pressure in reciprocal congenic strains of Milan rats. | Tripodi G, etal., Biochem Biophys Res Commun 2004 Nov 12;324(2):562-8. |
| 22. | Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes. | Tripodi G, etal., Gene 1995 Dec 12;166(2):307-11. |
| 23. | Hypertension-associated point mutations in the adducin alpha and beta subunits affect actin cytoskeleton and ion transport. | Tripodi G, etal., J Clin Invest. 1996 Jun 15;97(12):2815-22. |
| 24. | Alpha-adducin polymorphism, atherosclerosis, and cardiovascular and cerebrovascular risk. | van Rijn MJ, etal., Stroke. 2006 Dec;37(12):2930-4. Epub 2006 Nov 2. |
| 25. | Kainate-induced seizures alter protein composition and N-methyl-D-aspartate receptor function of rat forebrain postsynaptic densities. | Wyneken U, etal., Neuroscience. 2001;102(1):65-74. |
| 26. | Multi-locus candidate gene polymorphisms and risk of myocardial infarction: a population-based, prospective genetic analysis. | Zee RY, etal., J Thromb Haemost. 2006 Feb;4(2):341-8. |
Additional References at PubMed
| PMID:3693401 | PMID:7642559 | PMID:8626479 | PMID:10485892 | PMID:12477932 | PMID:16289097 | PMID:16641100 | PMID:18723693 | PMID:21423176 | PMID:21451595 | PMID:22658674 | PMID:25468996 |
| PMID:25978380 | PMID:29476059 |
Genomics
Comparative Map Data
| Add1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ADD1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Add1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Add1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ADD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ADD1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Add1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ADD1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ADD1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Add1 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in Add1
180 total Variants 
|
