Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ids | Mouse | autistic disorder | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Ids | Mouse | autosomal hemophilia A | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | Ids | Mouse | Developmental Disabilities | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | Ids | Mouse | Epidermolysis Bullosa Simplex 5D with Nail Dystrophy | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy | ClinVar | | Ids | Mouse | factor VIII deficiency | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | Ids | Mouse | genetic disease | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10215411 more ... | Ids | Mouse | mucopolysaccharidosis II | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10215411 more ... | Ids | Mouse | mucopolysaccharidosis II | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10215411 more ... | Ids | Mouse | mucopolysaccharidosis III | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar | PMID:25741868 and PMID:28492532 | Ids | Mouse | mucopolysaccharidosis type IIIA | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mucopolysaccharidosis and MPS-III-A | ClinVar | PMID:10447264 more ... | Ids | Mouse | syndromic X-linked intellectual disability Lubs type | | ISO | IDS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Biological Process
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Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Molecular Function
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genetic and physical mapping of the biglycan gene on the mouse X chromosome. | Chatterjee A, etal., Mamm Genome 1993;4(1):33-6. |
| 2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 3. | 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. |
| 4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 5. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 8. | Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. | Sukegawa K, etal., Biochem Biophys Res Commun. 1992 Mar 16;183(2):809-13. |
| 9. | Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. | Uttarilli A, etal., Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26. |
Additional References at PubMed
| PMID:1572654 | PMID:1937018 | PMID:8325651 | PMID:8352760 | PMID:8439729 | PMID:8678976 | PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12572850 |
| PMID:15149955 | PMID:15293786 | PMID:15962010 | PMID:16141072 | PMID:16141073 | PMID:16174644 | PMID:16505002 | PMID:17876721 | PMID:19679226 | PMID:20503373 | PMID:20643830 | PMID:20652491 |
| PMID:20876612 | PMID:21873635 | PMID:22096577 | PMID:22279584 | PMID:22704483 | PMID:22847837 | PMID:23568409 | PMID:27228099 | PMID:27590924 | PMID:28207863 | PMID:28334757 | PMID:29606503 |
| PMID:29648648 | PMID:30064964 | PMID:32751752 | PMID:34108486 | PMID:34681597 | PMID:35226042 | PMID:35816218 | PMID:37188686 | PMID:37196079 | PMID:37860991 |
Genomics
Comparative Map Data
| Ids (Mus musculus - house mouse) |
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| IDS (Homo sapiens - human) |
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| Ids (Rattus norvegicus - Norway rat) |
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| Ids (Chinchilla lanigera - long-tailed chinchilla) |
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| IDS (Pan paniscus - bonobo/pygmy chimpanzee) |
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| IDS (Canis lupus familiaris - dog) |
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| Ids (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| IDS (Sus scrofa - pig) |
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| LOC103232717 (Chlorocebus sabaeus - green monkey) |
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| Ids (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Ids
1061 total Variants 
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