Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:23858467 more ... | autistic disorder | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic disorder | ClinVar | PMID:23708187 more ... | autistic disorder | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23708187 more ... | cerebellar ataxia | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:20887364 more ... | cerebellar hypoplasia | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:21193638 more ... | congenital disorder of glycosylation Iu | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23109149 and PMID:28492532 | developmental and epileptic encephalopathy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | developmental and epileptic encephalopathy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | developmental and epileptic encephalopathy 31A | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:18469812 more ... | developmental and epileptic encephalopathy 4 | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | Developmental Disabilities | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:20887364 more ... | Developmental Disease | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:22495311 more ... | early infantile epileptic encephalopathy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:16199547 more ... | early infantile epileptic encephalopathy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:16199547 more ... | early infantile epileptic encephalopathy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:16199547 more ... | epilepsy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:24189369 more ... | Generalized Epilepsy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:20887364 more ... | genetic disease | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16806828 more ... | intellectual disability | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20887364 more ... | intellectual disability | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20887364 more ... | microcephaly | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Muscle Hypotonia | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar | PMID:20887364 more ... | Muscle Spasticity | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spasticity | ClinVar | | myoclonic-atonic epilepsy | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | nemaline myopathy 2 | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar | PMID:27854218 and PMID:28492532 | neurodegenerative disease | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: neurodegenerative disorder | ClinVar | PMID:23708187 more ... | Neurodevelopmental Disorders | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25131622 more ... | non-syndromic intellectual disability | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-syndromic intellectual disability | ClinVar | PMID:25741868 and PMID:28708303 | pathologic nystagmus | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar | PMID:20887364 more ... | primary coenzyme Q10 deficiency 7 | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:22368301 more ... | prostate cancer | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | salt and pepper syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | salt and pepper syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile epilepsy syndrome | ClinVar | PMID:17576681 more ... | salt and pepper syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | salt and pepper syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile epilepsy syndrome | ClinVar | PMID:18414213 more ... | salt and pepper syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile epilepsy syndrome | ClinVar | PMID:18414213 more ... | spastic ataxia | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:18414213 more ... | strabismus | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Strabismus | ClinVar | PMID:20887364 more ... | Tremor | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: tremors | ClinVar | PMID:20887364 more ... | West syndrome | | ISO | STXBP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | |