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- B0c406eb180d0fcaa2c26febb94c333f3 hasDbXref "PMID:16059934" @default.
- B0c406eb180d0fcaa2c26febb94c333f3 hasDbXref "PMID:20583176" @default.
- B0c406eb180d0fcaa2c26febb94c333f3 hasDbXref "PMID:24945352" @default.
- B0c406eb180d0fcaa2c26febb94c333f3 hasDbXref "PMID:9856479" @default.
- B0c406eb180d0fcaa2c26febb94c333f3 hasDbXref "https://clinicalgenome.org/affiliation/50007/" @default.
- B0c406eb180d0fcaa2c26febb94c333f3 type Axiom @default.
- B0c406eb180d0fcaa2c26febb94c333f3 annotatedProperty IAO_0000115 @default.
- B0c406eb180d0fcaa2c26febb94c333f3 annotatedSource MONDO_0100113 @default.
- B0c406eb180d0fcaa2c26febb94c333f3 annotatedTarget "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." @default.