Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | congenital disorder of glycosylation type IIm | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar | PMID:28492532 | genetic disease | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome | ClinVar | PMID:11137992 more ... | neurodegeneration with brain iron accumulation 5 | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar | PMID:28492532 | syndromic X-linked intellectual disability Lubs type | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked epilepsy with variable learning disabilities and behavior disorders | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome | ClinVar | PMID:28492532 | X-linked severe congenital neutropenia | | ISO | SLC38A5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked severe congenital neutropenia | ClinVar | PMID:10698340 more ... | |