Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast neoplasm | ClinVar | PMID:19946327 | Chromosome 5, Trisomy 5q | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 5q35 microduplication syndrome | ClinVar | PMID:31690835 | Ehlers-Danlos syndrome dermatosparaxis type | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and dermatosparaxis type | ClinVar | PMID:16770806 more ... | Ehlers-Danlos syndrome spondylodysplastic type 2 | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar | PMID:28492532 | genetic disease | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hodgkin's lymphoma | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar | PMID:25741868 and PMID:32934698 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | Neoplasm Invasiveness | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cancer progression and tumor cell motility | ClinVar | PMID:11830541 more ... | rhabdomyosarcoma | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:19809159 and PMID:24124571 | Sotos syndrome | | ISO | FGFR4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sotos syndrome | ClinVar | PMID:12464997 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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