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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CAKUT | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | microcephaly | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | nephronophthisis 14 | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar | PMID:28492532 | Townes-Brocks syndrome | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10533063 more ... | Townes-Brocks-Branchiootorenal-Like Syndrome | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome | ClinVar | PMID:10928856 more ... | X-linked VACTERL association | | ISO | SALL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VACTERL-H | ClinVar | PMID:25741868 | |