Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autosomal recessive limb-girdle muscular dystrophy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | autosomal recessive limb-girdle muscular dystrophy type 2O | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | Charcot-Marie-Tooth disease dominant intermediate C | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar | PMID:28492532 | congenital muscular dystrophy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital Muscular Dystrophy and alpha-dystroglycan related | ClinVar | PMID:17878207 more ... | congenital muscular dystrophy-dystroglycanopathy type A | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | ClinVar | PMID:11709191 more ... | congenital muscular dystrophy-dystroglycanopathy type A3 | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | developmental and epileptic encephalopathy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | early infantile epileptic encephalopathy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | fundus dystrophy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:12588800 more ... | genetic disease | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15466003 more ... | hydrocephalus | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hydrocephalus | ClinVar | PMID:25741868 | intellectual disability | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17878207 more ... | limb-girdle muscular dystrophy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar | | Muscle Hypotonia | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotonia | ClinVar | | muscular dystrophy-dystroglycanopathy | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | muscular dystrophy-dystroglycanopathy type B3 | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY more ... | ClinVar | PMID:11709191 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 | ClinVar | PMID:17878207 more ... | Nervous System Malformations | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | phenylketonuria | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Phenylketonuria | ClinVar | PMID:25741868 | Retinitis Pigmentosa 76 | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 76 | ClinVar | PMID:11709191 more ... | Walker-Warburg syndrome | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | Walker-Warburg syndrome | | ISO | POMGNT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11709191 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
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