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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC12A2 | Human | autism spectrum disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:32294086 and PMID:32658972 | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:32294086 | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:25741868 more ... | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:25741868 and PMID:32294086 | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:25741868 and PMID:28492532 | SLC12A2 | Human | autosomal dominant nonsyndromic deafness 78 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal dominant 78 | ClinVar | PMID:32658972 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | PMID:25741868 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | PMID:25741868 and PMID:32294086 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | PMID:32658972 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | PMID:25741868 and PMID:28492532 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | PMID:25741868 and PMID:32658972 | SLC12A2 | Human | Delpire-McNeill Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Delpire-McNeill syndrome | ClinVar | | SLC12A2 | Human | familial adenomatous polyposis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:33345190 | SLC12A2 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 more ... | SLC12A2 | Human | Hearing Loss | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing loss | ClinVar | PMID:32294086 and PMID:32658972 | SLC12A2 | Human | Hearing Loss | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing loss | ClinVar | PMID:32294086 | SLC12A2 | Human | Hearing Loss | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing loss | ClinVar | PMID:25741868 and PMID:32294086 | SLC12A2 | Human | Hearing Loss | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hearing loss | ClinVar | PMID:32294086 | SLC12A2 | Human | Hereditary Neoplastic Syndromes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | SLC12A2 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:25741868 and PMID:28492532 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:25741868 and PMID:32294086 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:25741868 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:32754646 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:28492532 | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:25741868 more ... | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | | SLC12A2 | Human | Kilquist Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kilquist syndrome | ClinVar | PMID:30740830 | SLC12A2 | Human | Multiple Organ Failure | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infant onset multiple organ failure | ClinVar | | SLC12A2 | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | SLC12A2 | Human | sensorineural hearing loss | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensorineural hearing loss disorder | ClinVar | PMID:25741868 more ... | |