Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3p deletion syndrome | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3p- syndrome | ClinVar | PMID:21681106 | Atrioventricular Septal Defect 2 | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrioventricular septal defect more ... | ClinVar | PMID:28492532 | autism spectrum disorder | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autistic disorder | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic behavior | ClinVar | PMID:28492532 | autosomal dominant intellectual developmental disorder 23 | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | Developmental Disabilities | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | Developmental Disease | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24680889 more ... | hyperphosphatasia with impaired intellectual development syndrome 4 | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar | | intellectual disability | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | KBG syndrome | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: KBG syndrome | ClinVar | | long QT syndrome | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:28492532 | microcephaly | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | NATURAL KILLER CELL ENTEROPATHY | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NK-cell enteropathy | ClinVar | | Neurodevelopmental Disorders | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:23020937 more ... | polymicrogyria | | ISO | SETD5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polymicrogyria | ClinVar | PMID:32581362 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse. | Cheung MY, etal., Genesis. 2021 Aug;59(7-8):e23421. doi: 10.1002/dvg.23421. Epub 2021 May 29. |
| 2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 3. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
| 4. | Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice. | Moore SM, etal., Transl Psychiatry. 2019 Jan 17;9(1):24. doi: 10.1038/s41398-018-0344-y. |
| 5. | 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. |
| 6. | 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. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | SET domain-containing 5 is a potential prognostic biomarker that promotes esophageal squamous cell carcinoma stemness. | Piao L, etal., Exp Cell Res. 2020 Apr 1;389(1):111861. doi: 10.1016/j.yexcr.2020.111861. Epub 2020 Jan 22. |
| 9. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 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. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 13. | SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth. | Yang Z, etal., Am J Pathol. 2022 Apr;192(4):712-721. doi: 10.1016/j.ajpath.2021.12.006. Epub 2022 Jan 19. |
| 14. | Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer. | Zhang Y, etal. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11544199 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:14681479 | PMID:15489334 | PMID:15782199 | PMID:16141072 |
| PMID:16141073 | PMID:17967808 | PMID:18799693 | PMID:21677750 | PMID:21873635 | PMID:22939622 | PMID:24562769 | PMID:26496610 | PMID:27864380 | PMID:28612505 | PMID:29055695 | PMID:29180574 |
| PMID:29539633 | PMID:30455454 | PMID:30973865 | PMID:31515109 | PMID:32299058 | PMID:32442403 | PMID:34321999 | PMID:34857762 | PMID:36349512 | PMID:37264456 |
Genomics
Comparative Map Data
| Setd5 (Mus musculus - house mouse) |
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| SETD5 (Homo sapiens - human) |
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| Setd5 (Rattus norvegicus - Norway rat) |
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| Setd5 (Chinchilla lanigera - long-tailed chinchilla) |
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| SETD5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SETD5 (Canis lupus familiaris - dog) |
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| Setd5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SETD5 (Sus scrofa - pig) |
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| SETD5 (Chlorocebus sabaeus - green monkey) |
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| Setd5 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Setd5
1549 total Variants 
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