Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | gray platelet syndrome | | ISO | NBEAL2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21765411 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Mammalian Phenotype
Disease Annotations
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Mammalian Phenotype
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. | Okazaki N, etal., DNA Res 2003 Aug 31;10(4):167-80. |
| 3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12466851 | PMID:12477932 | PMID:14610273 | PMID:16141072 | PMID:16141073 | PMID:20562862 | PMID:21677750 | PMID:21873635 |
| PMID:23861251 | PMID:23863626 | PMID:25258341 | PMID:25908104 | PMID:26916731 | PMID:26950939 | PMID:27079884 | PMID:28077416 | PMID:28783043 | PMID:28887433 | PMID:29187380 | PMID:29930006 |
| PMID:30354215 | PMID:30936549 | PMID:30973865 | PMID:31171812 | PMID:32245826 | PMID:32325033 | PMID:32929010 | PMID:38355793 |
Genomics
Comparative Map Data
| Nbeal2 (Mus musculus - house mouse) |
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| NBEAL2 (Homo sapiens - human) |
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| Nbeal2 (Rattus norvegicus - Norway rat) |
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| Nbeal2 (Chinchilla lanigera - long-tailed chinchilla) |
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| NBEAL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NBEAL2 (Canis lupus familiaris - dog) |
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| Nbeal2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NBEAL2 (Sus scrofa - pig) |
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| NBEAL2 (Chlorocebus sabaeus - green monkey) |
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| Nbeal2 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Nbeal2
963 total Variants 
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