Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | autistic disorder | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy more ... | ClinVar | PMID:25741868 | Barth syndrome | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | cerebellar ataxia | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:25741868 | cerebellar hypoplasia | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:10797421 more ... | cerebral creatine deficiency syndrome 1 | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | Developmental Disabilities | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | favism | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | genetic disease | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10469653 more ... | hereditary spastic paraplegia | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:10797421 more ... | Hirschsprung's disease | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | PMID:28492532 | hydrocephalus | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10797421 more ... | immunodeficiency 33 | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | intellectual disability | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | MASA syndrome | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10469653 more ... | paraplegia | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10469653 more ... | Partial Agenesis of Corpus Callosum, X-Linked | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Corpus callosum more ... | ClinVar | PMID:10469653 more ... | periventricular nodular heterotopia | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:10480214 more ... | severe congenital encephalopathy due to MECP2 mutation | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:15351775 more ... | Splenomegaly | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Lubs type | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | X-Linked Hydrocephalus | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10469653 more ... | X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction | | ISO | L1CAM (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hydrocephalus more ... | ClinVar | PMID:12650797 and PMID:15368500 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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