Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Adams-Oliver Syndrome 5 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | autosomal dominant intellectual developmental disorder 8 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 | autosomal dominant nocturnal frontal lobe epilepsy 5 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 14 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19264732 more ... | developmental and epileptic encephalopathy 14 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025100 more ... | epilepsy | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | genetic disease | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Joubert syndrome 1 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | Kleefstra syndrome 1 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | Leigh disease | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | primary coenzyme Q10 deficiency 7 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | Rafiq syndrome | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | tuberous sclerosis 1 | | ISO | SAPCD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Phenotype Annotations
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:7671812 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466305 | PMID:12466851 | PMID:12477932 | PMID:15567712 | PMID:16141072 | PMID:16141073 |
| PMID:17531978 | PMID:26766442 |
Genomics
Comparative Map Data
| Sapcd2 (Mus musculus - house mouse) |
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| SAPCD2 (Homo sapiens - human) |
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| Sapcd2 (Rattus norvegicus - Norway rat) |
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| Sapcd2 (Chinchilla lanigera - long-tailed chinchilla) |
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| SAPCD2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SAPCD2 (Canis lupus familiaris - dog) |
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| Sapcd2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SAPCD2 (Sus scrofa - pig) |
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| SAPCD2 (Chlorocebus sabaeus - green monkey) |
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| Sapcd2 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Sapcd2
106 total Variants 
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