Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:18443038 | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thalassemia and gamma-delta-beta | ClinVar | PMID:2798417 | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:2441598 and PMID:7687855 | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:6205403 and PMID:6208955 | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:10335983 | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:11822023 more ... | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar | PMID:1698280 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:7741137 | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:19065339 | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:21561349 | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:22935660 | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:12603090 more ... | Transient Neonatal Cyanosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cyanosis and transient neonatal | ClinVar | PMID:2470017 and PMID:2483933 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
Disease Annotations
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. | Kohli-Kumar M, etal., Am J Hematol. 1995 May;49(1):43-7. |
| 2. | Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. | Miller BA, etal., N Engl J Med. 1987 Jan 29;316(5):244-50. |
| 3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
Genomics
Comparative Map Data
| HBG2 (Homo sapiens - human) |
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| LOC100979149 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| LOC485255 (Canis lupus familiaris - dog) |
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Variants
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Variants in HBG2
53 total Variants 
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