Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3p deletion syndrome | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: 3p- syndrome | ClinVar | PMID:21681106 | Atrioventricular Septal Defect 2 | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Atrioventricular septal defect more ... | ClinVar | PMID:28492532 | autism spectrum disorder | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autistic disorder | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Autistic behavior | ClinVar | PMID:28492532 | autosomal dominant intellectual developmental disorder 23 | | ISO | RGD:1605381 | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | autosomal dominant intellectual developmental disorder 31 | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY more ... | ClinVar | PMID:25741868 | Developmental Disabilities | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | Developmental Disease | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24680889 more ... | Hyperphosphatasia with Mental Retardation Syndrome 4 | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar | | intellectual disability | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | KBG syndrome | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: KBG syndrome | ClinVar | | long QT syndrome | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:28492532 | microcephaly | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868, PMID:28492532 | NATURAL KILLER CELL ENTEROPATHY | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: NK-cell enteropathy | ClinVar | | Neurodevelopmental Disorders | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:23020937 more ... | polymicrogyria | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Polymicrogyria | ClinVar | PMID:32581362 | RADIO-TARTAGLIA SYNDROME | | ISO | RGD:1605381 | 8554872 | ClinVar Annotator: match by term: Radio-Tartaglia syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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