Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atypical hemolytic-uremic syndrome | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Bardet-Biedl syndrome | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:15776426 more ... | CAKUT | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:28492532 and PMID:30143558 | cholestasis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cholestasis | ClinVar | PMID:15776426 more ... | chromosome 1p36 deletion syndrome | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | | focal segmental glomerulosclerosis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:25741868 and PMID:28492532 | fundus dystrophy | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:15776426 more ... | genetic disease | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | infertility | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infertility | ClinVar | PMID:12205563 more ... | kidney disease | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12205563 more ... | Leber congenital amaurosis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:25445212 more ... | nephronophthisis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11920287 more ... | nephronophthisis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11920287 more ... | nephronophthisis | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis | ClinVar | PMID:11920287 more ... | nephronophthisis 1 | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: juvenile nephronophthisis | ClinVar | PMID:12205563 more ... | nephronophthisis 4 | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis 4 | ClinVar | PMID:12205563 more ... | Neurodevelopmental Disorders | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | retinitis pigmentosa | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:25741868 and PMID:34906470 | Senior-Loken syndrome | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar | PMID:25741868 and PMID:28492532 | Senior-Loken Syndrome 4 | | ISO | NPHP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Senior-Loken syndrome 4 | ClinVar | PMID:11920287 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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