Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Epb41 | Mouse | Elliptocytosis 1 | | ISO | EPB41 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Elliptocytosis 1 | ClinVar | PMID:1430200 more ... | Epb41 | Mouse | genetic disease | | ISO | EPB41 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Epb41 | Mouse | hereditary elliptocytosis | | ISO | EPB41 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary elliptocytosis | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - PID (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Association between myeloid malignancies and acquired deficit in protein 4.1R: a retrospective analysis of six patients. | Alanio-Brechot C, etal., Am J Hematol. 2008 Apr;83(4):275-8. |
| 2. | Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia. | Aszodi A, etal., Matrix Biol 1998 Mar;16(9):563-73. |
| 3. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 4. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
| 5. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 6. | MGD IEA | MGD IEA |
| 7. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 9. | ZnT-2, a mammalian protein that confers resistance to zinc by facilitating vesicular sequestration. | Palmiter RD, etal., EMBO J 1996 Apr 15;15(8):1784-91. |
| 10. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 11. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 14. | Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. | Shi ZT, etal., J Clin Invest. 1999 Feb;103(3):331-40. |
| 15. | Neurobehavioral deficits in mice lacking the erythrocyte membrane cytoskeletal protein 4.1. | Walensky LD, etal., Curr Biol. 1998 Nov 19;8(23):1269-72. |
Additional References at PubMed
| PMID:1684952 | PMID:3467321 | PMID:3755799 | PMID:7492792 | PMID:7983158 | PMID:8171035 | PMID:8429050 | PMID:8611723 | PMID:8878426 | PMID:9434160 | PMID:9828140 | PMID:10349636 |
| PMID:11042159 | PMID:11071908 | PMID:11076861 | PMID:11274145 | PMID:12426391 | PMID:12477932 | PMID:12520002 | PMID:12522012 | PMID:14610273 | PMID:15226823 | PMID:15782199 | PMID:15834631 |
| PMID:15855279 | PMID:16141072 | PMID:16141073 | PMID:16596451 | PMID:16602821 | PMID:16774987 | PMID:17967808 | PMID:18008102 | PMID:18524950 | PMID:18723693 | PMID:18787192 | PMID:18796539 |
| PMID:18799693 | PMID:18987665 | PMID:19185337 | PMID:19190245 | PMID:19272819 | PMID:19376086 | PMID:19729518 | PMID:19853587 | PMID:20339087 | PMID:20347762 | PMID:20585040 | PMID:20696915 |
| PMID:21181944 | PMID:21482674 | PMID:21486941 | PMID:21677750 | PMID:21693581 | PMID:21873635 | PMID:22429617 | PMID:23109359 | PMID:23287863 | PMID:23460639 | PMID:23704327 | PMID:24109598 |
| PMID:24159174 | PMID:24194600 | PMID:25243644 | PMID:26371508 | PMID:27323040 | PMID:27480124 | PMID:27626380 | PMID:27780863 | PMID:28701737 | PMID:28881432 | PMID:29107558 | PMID:31135971 |
| PMID:31562860 | PMID:31993060 | PMID:32157074 | PMID:32253237 | PMID:32325033 | PMID:32554809 | PMID:32852059 | PMID:33271128 | PMID:33385415 | PMID:34364872 | PMID:34717920 | PMID:36293380 |
| PMID:36417873 | PMID:38187761 | PMID:38355793 |
Genomics
Comparative Map Data
| Epb41 (Mus musculus - house mouse) |
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| EPB41 (Homo sapiens - human) |
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| Epb41 (Rattus norvegicus - Norway rat) |
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| Epb41 (Chinchilla lanigera - long-tailed chinchilla) |
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| EPB41 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EPB41 (Canis lupus familiaris - dog) |
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| Epb41 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EPB41 (Sus scrofa - pig) |
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| EPB41 (Chlorocebus sabaeus - green monkey) |
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| Epb41 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Epb41
5086 total Variants 
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