GENE - TERM ANNOTATION REPORT
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
Object Symbol | Qualifier | Evidence | With | Reference | Source | Notes | Original Reference(s) | HESX1 | | IAGP | | 1601424 | RGD | DNA:transition:CDS:p.R160C (478C>T) human | | HESX1 | | IAGP | | 7240710 | OMIM | | | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:17148560 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:21325470 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:21270112 PMID:22466334 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:23465708 PMID:25741868 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:25741868 PMID:26781211 PMID:28332357 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:11748154 PMID:16199547 PMID:19093031 PMID:28492532 PMID:9620767 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:25741868 PMID:27000987 PMID:2700987 PMID:28396770 PMID:28492532 PMID:31395954 | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:25741868 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:17576681 PMID:28492532 PMID:9536098 | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:16940453 PMID:21270112 PMID:28492532 PMID:9620767 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:17315526 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:11748154 PMID:25910213 PMID:27013732 PMID:28492532 PMID:9620767 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:27343026 PMID:28492532 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:17148560 PMID:28492532 PMID:30888394 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:28492532 PMID:32796691 | HESX1 | | IAGP | (Homo sapiens) or (Homo sapiens) or (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:25741868 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:19093031 PMID:22145475 PMID:25500790 PMID:27000987 PMID:28492532 PMID:30266296 PMID:9620767 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:8696006 PMID:9620767 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septooptic dysplasia, mild | PMID:10599689 PMID:11136712 PMID:11748154 PMID:17148560 PMID:28492532 PMID:34906519 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:11136712 PMID:28492532 PMID:32483926 PMID:33098107 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:14557462 | HESX1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | PMID:11136712 PMID:18852528 PMID:28492532 PMID:31022718 PMID:33451138 | HESX1 | | ISS | Hesx1 (Mus musculus) | 13592920 | MouseDO | OMIM:182230 | | |
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