Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12464997 more ... | autistic disorder | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:12464997 more ... | Beckwith-Wiedemann syndrome | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar | PMID:12464997 more ... | choroid plexus carcinoma | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Choroid plexus carcinoma | ClinVar | PMID:26822237 | Chromosome 5, Trisomy 5q | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 5q35 microduplication syndrome | ClinVar | PMID:31690835 | Ehlers-Danlos syndrome dermatosparaxis type | | ISO | NSD1 (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 | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar | PMID:28492532 | epilepsy | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11226167 more ... | Hereditary Neoplastic Syndromes | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia 8 | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar | PMID:25741868 | holoprosencephaly 2 | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar | PMID:25741868 and PMID:34008892 | Hydrops Fetalis | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-immune hydrops fetalis | ClinVar | PMID:25741868 | Hypertelorism | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:12464997 more ... | intellectual disability | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 more ... | microcephaly | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:16247291 more ... | pre-eclampsia | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Preeclampsia | ClinVar | PMID:12464997 more ... | Sotos syndrome | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sotos syndrome | ClinVar | PMID:11896389 more ... | Sotos syndrome 1 | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12464997 more ... | Weaver syndrome | | ISO | NSD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Weaver syndrome | ClinVar | PMID:18414213 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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