Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TMPRSS3 | Pig | autosomal recessive nonsyndromic deafness | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11137999 more ... | TMPRSS3 | Pig | autosomal recessive nonsyndromic deafness 8 | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11137999 more ... | TMPRSS3 | Pig | cataract 9 multiple types | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | TMPRSS3 | Pig | developmental and epileptic encephalopathy 30 | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | TMPRSS3 | Pig | genetic disease | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11907649 more ... | TMPRSS3 | Pig | Hearing Loss | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11137999 more ... | TMPRSS3 | Pig | homocystinuria | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | TMPRSS3 | Pig | nonsyndromic deafness | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11907649 more ... | TMPRSS3 | Pig | primary ciliary dyskinesia | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | TMPRSS3 | Pig | progressive myoclonus epilepsy | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | TMPRSS3 | Pig | Waardenburg syndrome | | ISO | TMPRSS3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar | PMID:24033266 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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