Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute lymphoblastic leukemia | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25485910 more ... | autism spectrum disorder | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:25741868 more ... | autosomal dominant intellectual developmental disorder | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability | ClinVar | PMID:25741868 | autosomal dominant intellectual developmental disorder 42 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19344873 more ... | cerebral palsy | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:24033266 more ... | chromosome 1p36 deletion syndrome | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | PMID:25741868 | cleft palate | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cleft palate | ClinVar | PMID:24033266 more ... | congenital myasthenic syndrome 8 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 | ClinVar | PMID:24951643 and PMID:28492532 | Developmental Disabilities | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:24033266 more ... | dilated cardiomyopathy 1LL | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar | PMID:28492532 | dystonia | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:24033266 more ... | Ehlers-Danlos syndrome spondylodysplastic type 2 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ... | ClinVar | PMID:10862081 more ... | epilepsy | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:24033266 more ... | epilepsy | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | epilepsy with generalized tonic-clonic seizures | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized tonic-clonic seizures | ClinVar | PMID:25741868 more ... | Failure to Thrive | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Failure to thrive | ClinVar | PMID:24033266 more ... | focal epilepsy | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar | PMID:25485910 more ... | genetic disease | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19344873 more ... | Goldberg-Shprintzen syndrome | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome | ClinVar | PMID:28492532 | Growth Disorders | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Growth Retardation | ClinVar | PMID:24033266 more ... | hypothyroidism | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypothyroidism | ClinVar | PMID:24033266 more ... | idiopathic generalized epilepsy | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | immunodeficiency 16 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar | PMID:10862081 more ... | immunodeficiency 38 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | ClinVar | PMID:10862081 more ... | intellectual disability | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | intellectual disability | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | Joubert syndrome 25 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 25 | ClinVar | PMID:10862081 more ... | Language Development Disorders | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Expressive language delay | ClinVar | PMID:24033266 more ... | microcephaly | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 more ... | Muscle Hypotonia | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: poor muscle tone | ClinVar | PMID:24033266 more ... | myelodysplastic syndrome | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myelodysplastic syndromes | ClinVar | PMID:24033266 more ... | Neurodevelopmental Disorders | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:24033266 more ... | pathologic nystagmus | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nystagmus | ClinVar | PMID:24033266 more ... | Peroxisome Biogenesis Disorder, Complementation Group 7 | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7 | ClinVar | PMID:10862081 more ... | Shprintzen-Goldberg Craniosynostosis | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome | ClinVar | PMID:28492532 | strabismus | | ISO | GNB1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Strabismus | ClinVar | PMID:24033266 more ... | | 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Analyze GeneStrainQTL List |
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Imported Annotations - PID (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
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Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
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Cellular Component
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Molecular Function
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Molecular Pathway Annotations
Click to see Annotation Detail View
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Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Photoreceptor signaling: supporting vision across a wide range of light intensities. | Arshavsky VY and Burns ME, J Biol Chem. 2012 Jan 13;287(3):1620-6. Epub 2011 Nov 10. |
| 2. | Positional cloning of the mouse saccharin preference (Sac) locus. | Bachmanov AA, etal., Chem Senses 2001 Sep;26(7):925-33. |
| 3. | Gene structure and chromosomal localization of the mouse homologue of rat OX40 protein. | Birkeland ML, etal., Eur J Immunol 1995 Apr;25(4):926-30. |
| 4. | Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality. | Kiefer KC, etal., ESC Heart Fail. 2021 Jun;8(3):1873-1884. doi: 10.1002/ehf2.13297. Epub 2021 Mar 28. |
| 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. | Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. | Ko MS, etal., Hum Mol Genet 1998 Nov;7(12):1967-78. |
| 7. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 8. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 9. | 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. |
| 10. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 11. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 12. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 13. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 16. | Large-scale screen for genes involved in gonad development. | Wertz K and Herrmann BG, Mech Dev 2000 Nov;98(1-2):51-70. |
Additional References at PubMed
| PMID:1540129 | PMID:1543505 | PMID:1572642 | PMID:2328987 | PMID:2902634 | PMID:7590745 | PMID:7774930 | PMID:7972043 | PMID:8001974 | PMID:8199413 | PMID:8415697 | PMID:8550614 |
| PMID:8663016 | PMID:8858601 | PMID:8889548 | PMID:8917111 | PMID:9250857 | PMID:9733924 | PMID:10349636 | PMID:10570481 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 |
| PMID:11319557 | PMID:11685543 | PMID:11812828 | PMID:11913780 | PMID:12180136 | PMID:12359736 | PMID:12477932 | PMID:12520002 | PMID:12551930 | PMID:12802257 | PMID:14610273 | PMID:14712229 |
| PMID:14742685 | PMID:15146195 | PMID:15163632 | PMID:15489334 | PMID:15782199 | PMID:16099817 | PMID:16110338 | PMID:16141072 | PMID:16141073 | PMID:16221676 | PMID:16565360 | PMID:16783646 |
| PMID:17110384 | PMID:17167406 | PMID:17634366 | PMID:17967808 | PMID:18045877 | PMID:18367617 | PMID:18462949 | PMID:18563486 | PMID:18614564 | PMID:18799693 | PMID:19723622 | PMID:19805139 |
| PMID:19917775 | PMID:20114047 | PMID:20186915 | PMID:20525682 | PMID:20547679 | PMID:21052544 | PMID:21247419 | PMID:21632928 | PMID:21677750 | PMID:21812758 | PMID:21873635 | PMID:22065575 |
| PMID:22083510 | PMID:22586107 | PMID:22794259 | PMID:23209302 | PMID:23288843 | PMID:23704327 | PMID:23716657 | PMID:23761911 | PMID:23954591 | PMID:24367558 | PMID:25044020 | PMID:25093805 |
| PMID:25131634 | PMID:26496610 | PMID:27008858 | PMID:27074662 | PMID:27507650 | PMID:28190767 | PMID:28334111 | PMID:28378742 | PMID:28615442 | PMID:28634551 | PMID:28671696 | PMID:28706196 |
| PMID:29382714 | PMID:30196744 | PMID:30550785 | PMID:30562941 | PMID:30777924 | PMID:30783011 | PMID:32098917 | PMID:32325033 | PMID:32332099 | PMID:32581705 | PMID:32928505 | PMID:33378226 |
| PMID:34932372 | PMID:36293380 | PMID:36808153 | PMID:37275776 | PMID:38187761 | PMID:38355793 |
Genomics
Comparative Map Data
| Gnb1 (Mus musculus - house mouse) |
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| GNB1 (Homo sapiens - human) |
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| Gnb1 (Rattus norvegicus - Norway rat) |
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| Gnb1 (Chinchilla lanigera - long-tailed chinchilla) |
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| GNB1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GNB1 (Canis lupus familiaris - dog) |
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| Gnb1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GNB1 (Sus scrofa - pig) |
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| GNB1 (Chlorocebus sabaeus - green monkey) |
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| Gnb1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Gnb1
2725 total Variants 
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