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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ASIP | Human | glutathione synthetase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA | ClinVar | PMID:12638941|PMID:15717202|PMID:28492532 | ASIP | Human | glutatione synthetase deficiency with 5-oxoprolinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY | ClinVar | PMID:12638941|PMID:15717202|PMID:28492532 | ASIP | Human | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | ClinVar | PMID:15024124|PMID:20852937|PMID:28492532 | ASIP | Human | long QT syndrome | | IAGP | RGD:13819266|RGD:13819679 | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:28492532 | ASIP | Human | Obesity and Hypopigmentation | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Obesity and hypopigmentation | ClinVar | PMID:36536132 | ASIP | Human | Sunburn | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR | ClinVar | PMID:11833005|PMID:18488028 | ASIP | Human | Sunburn | | IAGP | RGD:405677014|RGD:408367599 | 8554872 | ClinVar Annotator: match by term: ASIP-related condition | ClinVar | | ASIP | Human | Sunburn | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASIP-related condition | ClinVar | PMID:25741868|PMID:28492532 | |