Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis type 1 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | autosomal dominant intellectual developmental disorder 7 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | Developmental Disabilities | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25590979 more ... | Developmental Disease | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25590979 more ... | hereditary spastic paraplegia 17 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 | ClinVar | PMID:25590979 more ... | intellectual disability | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25590979 more ... | Parkinson's disease 20 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | ZTTK Syndrome | | ISO | SON (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Mammalian Phenotype
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Biological Process
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Phenotype Annotations
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | A gene expression map of human chromosome 21 orthologues in the mouse. | Gitton Y, etal., Nature 2002 Dec 5;420(6915):586-90. |
| 2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 3. | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | Kim JH, etal., Am J Hum Genet. 2016 Sep 1;99(3):711-9. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. |
| 4. | SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. | Kim JH, etal., Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15. |
| 5. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
| 6. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 7. | Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 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 Feb 28;10(1):35-48. |
| 8. | 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. |
| 9. | Human chromosome 21 gene expression atlas in the mouse. | Reymond A, etal., Nature 2002 Dec 5;420(6915):582-6. |
| 10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 12. | Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. | Slezak R, etal., Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24. |
| 13. | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | Tokita MJ, etal., Am J Hum Genet. 2016 Sep 1;99(3):720-7. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18. |
| 14. | A new self-attenuated therapeutic influenza vaccine that uses host cell-restricted attenuation by artificial microRNAs. | Wen K, etal., Int J Pharm. 2022 Jan 25;612:121325. doi: 10.1016/j.ijpharm.2021.121325. Epub 2021 Dec 6. |
Additional References at PubMed
| PMID:7657183 | PMID:8318737 | PMID:8889548 | PMID:9185665 | PMID:10349636 | PMID:10922068 | PMID:10950926 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12904583 | PMID:14519200 |
| PMID:14610273 | PMID:14681479 | PMID:15798186 | PMID:16033648 | PMID:16141072 | PMID:16141073 | PMID:16751776 | PMID:18554416 | PMID:18799693 | PMID:18952841 | PMID:20876580 | PMID:21873635 |
| PMID:23322776 | PMID:23416452 | PMID:24457600 | PMID:28378742 | PMID:30333137 | PMID:32325033 | PMID:32448361 | PMID:38065069 | PMID:38290089 |
Genomics
Comparative Map Data
| Son (Mus musculus - house mouse) |
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| SON (Homo sapiens - human) |
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| Son (Rattus norvegicus - Norway rat) |
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| Son (Chinchilla lanigera - long-tailed chinchilla) |
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| SON (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SON (Canis lupus familiaris - dog) |
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| Son (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SON (Sus scrofa - pig) |
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| SON (Chlorocebus sabaeus - green monkey) |
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| Son (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Son
1158 total Variants 
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