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"atg4d" }, { "symbol": "KRI1", "ensemblId": "ENSG00000129347", "biotype": "protein_coding", "start": 10553085, "end": 10566031, "strand": "-", "slug": "kri1" }, { "symbol": "CDKN2D", "ensemblId": "ENSG00000129355", "biotype": "protein_coding", "start": 10566460, "end": 10569059, "strand": "-", "slug": "cdkn2d" }, { "symbol": "AP1M2", "ensemblId": "ENSG00000129354", "biotype": "protein_coding", "start": 10569431, "end": 10587317, "strand": "-", "slug": "ap1m2" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circle-of-willis-morphology", "name": "Abnormal circle of Willis morphology", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circle-of-willis-morphology" }, { "slug": "abnormal-brainstem-morphology", "name": "Abnormal shape of brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "cerebral-berry-aneurysm", "name": "Cerebral berry aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-berry-aneurysm" }, { "slug": "encephalomalacia", "name": "Encephalomalacia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/encephalomalacia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "atherosclerosis", "name": "Narrowing and hardening of arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atherosclerosis" }, { "slug": "oculomotor-nerve-palsy", "name": "Oculomotor nerve palsy", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oculomotor-nerve-palsy" }, { "slug": "visual-field-defect", "name": "Partial loss of field of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-field-defect" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "aortic-dissection", "name": "Tear in inner wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-dissection" }, { "slug": "hemiparesis", "name": "Weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiparesis" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }