Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cherubism | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrous dysplasia of jaw | ClinVar | PMID:28492532 | Ellis-Van Creveld syndrome | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar | PMID:17024374 more ... | essential hypertension | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertension more ... | ClinVar | PMID:10024330 more ... | genetic disease | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Tracheoesophageal Fistula | | ISO | ADD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tracheoesophageal fistula | ClinVar | PMID:32641753 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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) |
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| ADD1 (Homo sapiens - human) |
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| Add1 (Mus musculus - house mouse) |
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| Add1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ADD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ADD1 (Canis lupus familiaris - dog) |
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| Add1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ADD1 (Sus scrofa - pig) |
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| ADD1 (Chlorocebus sabaeus - green monkey) |
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| Add1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Add1
179 total Variants 
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