Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700480 more ... | autosomal recessive nonsyndromic deafness 4 | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10190331 more ... | autosomal recessive nonsyndromic deafness 4 | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:30311386 more ... | autosomal recessive nonsyndromic deafness 4 | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10190331 more ... | congenital hypothyroidism | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hypothyroidism | ClinVar | | Deafness | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness | ClinVar | PMID:11317356 more ... | genetic disease | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15355436 more ... | Hearing Loss | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700480 more ... | Hearing Loss | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10700480 more ... | hypothyroidism | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypothyroidism | ClinVar | PMID:25741868 | Pendred syndrome | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:30086623 more ... | Pendred syndrome | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10190331 more ... | pleomorphic xanthoastrocytoma | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | primary autosomal recessive microcephaly 5 | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly 5 more ... | ClinVar | PMID:12676893 more ... | Wolff-Parkinson-White syndrome | | ISO | SLC26A4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:11317356 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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