Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | atypical Gaucher's disease due to saposin C deficiency | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency | ClinVar | PMID:25741868 and PMID:28492532 | Atypical Krabbe Disease due to Saposin A Deficiency | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Krabbe disease more ... | ClinVar | PMID:25741868 and PMID:28492532 | autosomal recessive nonsyndromic deafness | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11090341 more ... | autosomal recessive nonsyndromic deafness 12 | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness and autosomal recessive 12 | ClinVar | PMID:11090341 more ... | beta-mannosidosis | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar | PMID:25741868 more ... | combined saposin deficiency | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18429043 more ... | Deafness | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deafness | ClinVar | PMID:30303587 | fundus dystrophy | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:11138009 more ... | genetic disease | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11090341 more ... | Hearing Loss | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18429043 more ... | Hearing Loss | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11138009 more ... | Hearing Loss | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18429043 more ... | Hereditary Neoplastic Syndromes | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Krabbe disease | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18429043 more ... | Meniere's disease | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Meniere disease | ClinVar | PMID:18429043 more ... | metachromatic leukodystrophy | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18429043 more ... | Metachromatic Leukodystrophy due to Saposin B Deficiency | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Neurodevelopmental Disorders | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | PMID:12075507 more ... | nonsyndromic deafness | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15660226 more ... | Nonsyndromic Sensorineural Hearing Loss | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment | ClinVar | PMID:18429043 more ... | pituitary adenoma 5 | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11090341 more ... | retinitis pigmentosa | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:18429043 more ... | retinitis pigmentosa-deafness syndrome | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome | ClinVar | PMID:12075507 more ... | sensorineural hearing loss | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensorineural hearing loss disorder | ClinVar | PMID:22899989 more ... | Stickler syndrome | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stickler syndrome | ClinVar | PMID:28492532 and PMID:30311386 | Usher syndrome | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11090341 more ... | Usher syndrome type 1 | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome type 1 | ClinVar | PMID:11090341 more ... | Usher Syndrome Type 1B | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11090341 more ... | Usher syndrome type 1D | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11090341 more ... | Usher syndrome type 2 | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome type 2 | ClinVar | PMID:25741868 | Usher syndrome type 2A | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome type 2A | ClinVar | PMID:12075507 more ... | Usher Syndrome, Type ID/F | | ISO | CDH23 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: USHER SYNDROME more ... | ClinVar | PMID:11138009 more ... | | 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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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