Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3d1b69bcb85c900b5bfe3a0f4e6e8956> ?p ?o ?g. }
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- B3d1b69bcb85c900b5bfe3a0f4e6e8956 hasDbXref "PMID:25420144" @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 hasDbXref "PMID:25915598" @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 hasDbXref "PMID:33811134" @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 hasDbXref "https://clinicalgenome.org/affiliation/40006/" @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 type Axiom @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 annotatedProperty IAO_0000115 @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 annotatedSource MONDO_0100485 @default.
- B3d1b69bcb85c900b5bfe3a0f4e6e8956 annotatedTarget "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently." @default.