Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC9A1 | Human | autosomal recessive spinocerebellar ataxia 19 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar | PMID:25205112 | SLC9A1 | Human | autosomal recessive spinocerebellar ataxia 19 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar | PMID:25741868 and PMID:28492532 | SLC9A1 | Human | autosomal recessive spinocerebellar ataxia 19 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar | | SLC9A1 | Human | autosomal recessive spinocerebellar ataxia 19 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar | PMID:25741868 | SLC9A1 | Human | autosomal recessive spinocerebellar ataxia 19 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar | PMID:30018422 | SLC9A1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | SLC9A1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:30018422 | SLC9A1 | Human | nonprogressive cerebellar ataxia with mental retardation | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Chronic NHE-1 blockade induces an antiapoptotic effect in the hypertrophied heart. | Garciarena CD, etal., J Appl Physiol. 2009 Apr;106(4):1325-31. Epub 2009 Jan 29. |
| 2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 3. | Contractility of ventricular myocytes is well preserved despite altered mechanisms of Ca2+ transport and a changing pattern of mRNA in aged type 2 Zucker diabetic fatty rat heart. | Howarth FC, etal., Mol Cell Biochem. 2012 Feb;361(1-2):267-80. Epub 2011 Oct 19. |
| 4. | Identification of a potent Sodium Hydrogen Exchanger isoform 1 (NHE1) inhibitor with a suitable profile for chronic dosing and demonstrated cardioprotective effects in a preclinical model of myocardial infarction in the rat. | Huber JD, etal., J Med Chem. 2012 Jul 17. |
| 5. | Altered expression of Na(+)/H(+) exchanger isoforms 1 and 3 in clipped and unclipped kidneys of a 2-kidney-1-clip Goldblatt model of hypertension. | Khan I, etal., Nephron 2002 Oct;92(2):346-55. |
| 6. | Neurovascular protection in voltage-gated proton channel Hv1 knock-out rats after ischemic stroke: interaction with Na+ /H+ exchanger-1 antagonism. | Li W, etal., Physiol Rep. 2019 Aug;7(13):e14142. doi: 10.14814/phy2.14142. |
| 7. | Thyroid hormone receptor alpha 1 regulates expression of the Na+/H+ exchanger (NHE1). | Li X, etal., J Biol Chem 2002 Aug 9;277(32):28656-62. |
| 8. | [Adenosine alleviates hypoxia-induced rat right ventricular hypertrophy through the NHE-1/CaN signal pathway]. | Lin M, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2012 May;32(5):734-7. |
| 9. | [Cariporide pretreatment attenuated warm ischemia/reperfusion injury in an isolated rat lung: a study on antioxidative mechanism]. | Lin X, etal., Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2010 Feb;27(1):132-7. |
| 10. | Na+/H+-exchanger-1 inhibition counteracts diabetic cataract formation and retinal oxidative-nitrative stress and apoptosis. | Lupachyk S, etal., Int J Mol Med. 2012 Jun;29(6):989-98. doi: 10.3892/ijmm.2012.933. Epub 2012 Mar 7. |
| 11. | Activation of Na+/H+ exchanger 1 is sufficient to generate Ca2+ signals that induce cardiac hypertrophy and heart failure. | Nakamura TY, etal., Circ Res. 2008 Oct 10;103(8):891-9. Epub 2008 Sep 5. |
| 12. | The effect of Na(+)/H(+) exchanger-1 inhibition by sabiporide on blood-brain barrier dysfunction after ischemia/hypoxia in vivo and in vitro. | Park SL, etal., Brain Res. 2010 Dec 17;1366:189-96. Epub 2010 Sep 29. |
| 13. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 14. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 18. | Na+/H+ exchange inhibition with cariporide prevents alterations of coronary endothelial function in streptozotocin-induced diabetes. | Vial G, etal., Mol Cell Biochem. 2008 Mar;310(1-2):93-102. Epub 2007 Dec 5. |
| 19. | A physiogenomic approach to study the regulation of blood pressure. | Westhoff TH, etal., Physiol Genomics. 2005 Sep 21;23(1):46-53. Epub 2005 Jun 7. |
| 20. | The rise of [Na(+)] (i) during ischemia and reperfusion in the rat heart-underlying mechanisms. | Williams IA, etal., Pflugers Arch. 2007 Mar 14;. |
| 21. | Low-volume resuscitation from traumatic hemorrhagic shock with Na+/H+ exchanger inhibitor. | Wu D, etal., Crit Care Med. 2009 Jun;37(6):1994-9. |
Additional References at PubMed
| PMID:1712287 | PMID:1979310 | PMID:2154036 | PMID:2536298 | PMID:2846238 | PMID:8068684 | PMID:8283968 | PMID:8901634 | PMID:9688597 | PMID:10713111 | PMID:10913675 | PMID:11163215 |
| PMID:11279064 | PMID:11350981 | PMID:11369779 | PMID:11604491 | PMID:11696366 | PMID:11852051 | PMID:12065894 | PMID:12138085 | PMID:12226101 | PMID:12477932 | PMID:12479094 | PMID:12549930 |
| PMID:12562776 | PMID:12576672 | PMID:12598940 | PMID:12626508 | PMID:12682826 | PMID:12765964 | PMID:12809501 | PMID:12905871 | PMID:14680478 | PMID:14702039 | PMID:15035633 | PMID:15096511 |
| PMID:15105296 | PMID:15253667 | PMID:15269707 | PMID:15465015 | PMID:15489334 | PMID:15523538 | PMID:15535843 | PMID:15610042 | PMID:15677483 | PMID:15772858 | PMID:15823043 | PMID:15843433 |
| PMID:16002403 | PMID:16189514 | PMID:16306134 | PMID:16344560 | PMID:16475831 | PMID:16511206 | PMID:16710297 | PMID:16710414 | PMID:16717153 | PMID:16861220 | PMID:17050540 | PMID:17073455 |
| PMID:17167226 | PMID:17209041 | PMID:17332506 | PMID:17339567 | PMID:17349711 | PMID:17565280 | PMID:17662110 | PMID:17894388 | PMID:17913870 | PMID:17916606 | PMID:17943310 | PMID:17981808 |
| PMID:17982256 | PMID:18003619 | PMID:18094063 | PMID:18094149 | PMID:18263712 | PMID:18264982 | PMID:18407588 | PMID:18480176 | PMID:18508719 | PMID:18508767 | PMID:18701649 | PMID:18757828 |
| PMID:18996841 | PMID:19176522 | PMID:19199708 | PMID:19301149 | PMID:19479940 | PMID:19622752 | PMID:19835836 | PMID:19854014 | PMID:19876777 | PMID:19887620 | PMID:19958503 | PMID:20138826 |
| PMID:20301317 | PMID:20338684 | PMID:20427472 | PMID:20542029 | PMID:20547664 | PMID:20561412 | PMID:20609358 | PMID:20737315 | PMID:20855896 | PMID:20936779 | PMID:20974853 | PMID:21047280 |
| PMID:21063092 | PMID:21148407 | PMID:21170089 | PMID:21185840 | PMID:21221801 | PMID:21261728 | PMID:21345796 | PMID:21349616 | PMID:21359875 | PMID:21392185 | PMID:21413028 | PMID:21423176 |
| PMID:21425832 | PMID:21454803 | PMID:21553168 | PMID:21669197 | PMID:21729545 | PMID:21867601 | PMID:21873635 | PMID:21931166 | PMID:21997166 | PMID:22020933 | PMID:22120673 | PMID:22138972 |
| PMID:22216126 | PMID:22270364 | PMID:22301060 | PMID:22494070 | PMID:22688515 | PMID:22718548 | PMID:22772156 | PMID:22922957 | PMID:22939629 | PMID:22984264 | PMID:23184727 | PMID:23220151 |
| PMID:23224899 | PMID:23303189 | PMID:23331996 | PMID:23393197 | PMID:23429007 | PMID:23429008 | PMID:23602949 | PMID:23677982 | PMID:23678047 | PMID:23837875 | PMID:23902689 | PMID:24088894 |
| PMID:24136992 | PMID:24337203 | PMID:24378530 | PMID:24434427 | PMID:24717311 | PMID:24840010 | PMID:24874739 | PMID:24891603 | PMID:25043809 | PMID:25162926 | PMID:25190744 | PMID:25205112 |
| PMID:25241983 | PMID:25275700 | PMID:25350536 | PMID:25372487 | PMID:25468996 | PMID:25514463 | PMID:25620102 | PMID:25677682 | PMID:25724898 | PMID:25748234 | PMID:25760855 | PMID:25802333 |
| PMID:26186194 | PMID:26234675 | PMID:26397063 | PMID:26439863 | PMID:26496610 | PMID:26638075 | PMID:26646587 | PMID:26775040 | PMID:26819309 | PMID:26821117 | PMID:26944480 | PMID:27049728 |
| PMID:27083547 | PMID:27176613 | PMID:27287871 | PMID:27302366 | PMID:27434882 | PMID:27529686 | PMID:27636896 | PMID:27650500 | PMID:27751915 | PMID:27773735 | PMID:27902974 | PMID:28055960 |
| PMID:28098891 | PMID:28268168 | PMID:28432487 | PMID:28514442 | PMID:28554535 | PMID:28806945 | PMID:28925083 | PMID:28986522 | PMID:29395067 | PMID:30018422 | PMID:30033048 | PMID:30044661 |
| PMID:30071192 | PMID:30194290 | PMID:30287853 | PMID:30333031 | PMID:30639242 | PMID:30834261 | PMID:30977986 | PMID:31056421 | PMID:31067690 | PMID:31093311 | PMID:31357694 | PMID:31375679 |
| PMID:31527615 | PMID:31561854 | PMID:31723030 | PMID:31871319 | PMID:31912575 | PMID:32469979 | PMID:32703317 | PMID:32788342 | PMID:32841374 | PMID:33201382 | PMID:33273619 | PMID:33655882 |
| PMID:33804289 | PMID:33845483 | PMID:33961781 | PMID:34000263 | PMID:34038242 | PMID:34079125 | PMID:34108458 | PMID:34205045 | PMID:34439840 | PMID:34638919 | PMID:34709727 | PMID:34768780 |
| PMID:34933181 | PMID:34948058 | PMID:34979106 | PMID:35084672 | PMID:35337019 | PMID:35339998 | PMID:38117590 | PMID:38520980 | PMID:38569033 | PMID:39118129 |
Genomics
Comparative Map Data
| SLC9A1 (Homo sapiens - human) |
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| Slc9a1 (Mus musculus - house mouse) |
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| Slc9a1 (Rattus norvegicus - Norway rat) |
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| Slc9a1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SLC9A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SLC9A1 (Canis lupus familiaris - dog) |
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| Slc9a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SLC9A1 (Sus scrofa - pig) |
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| SLC9A1 (Chlorocebus sabaeus - green monkey) |
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| Slc9a1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in SLC9A1
169 total Variants 
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