Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenylosuccinase lyase deficiency | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar | PMID:28492532 | atypical hemolytic-uremic syndrome | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar | PMID:24033266 more ... | autosomal dominant nonsyndromic deafness 17 | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10603121 more ... | autosomal recessive nonsyndromic deafness | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal recessive | ClinVar | | focal segmental glomerulosclerosis | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:19557653 more ... | focal segmental glomerulosclerosis 1 | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar | PMID:19557653 more ... | genetic disease | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24033266 more ... | Giant Platelet Syndrome with Thrombocytopenia | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia | ClinVar | PMID:10603121 more ... | glomerulonephritis | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glomerulonephritis | ClinVar | PMID:25741868 and PMID:28492532 | Hearing Loss | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:18059020 more ... | hemorrhagic disease | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:10739770 more ... | Infantile Capillary Hemangioma | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar | PMID:28492532 | kidney disease | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | MYH-9 related disease | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10603121 more ... | nephrotic syndrome | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:24033266 more ... | Nonsyndromic Sensorineural Hearing Loss | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Dominant | ClinVar | PMID:24033266 more ... | obesity | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Obesity | ClinVar | PMID:25741868 and PMID:31064749 | proteinuria | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteinuria | ClinVar | PMID:25741868 and PMID:28492532 | thrombocytopenia | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:10973259 more ... | type 1 diabetes mellitus 17 | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 | ClinVar | PMID:25741868 | Vitelliform Macular Dystrophy 1 | | ISO | MYH9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 | ClinVar | PMID:24033266 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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