Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7e93e971fa92db377744c6ee0f3016e8> ?p ?o ?g. }
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- B7e93e971fa92db377744c6ee0f3016e8 NCIT_P378 "NCI" @default.
- B7e93e971fa92db377744c6ee0f3016e8 NCIT_P381 "Entrez Gene" @default.
- B7e93e971fa92db377744c6ee0f3016e8 type Axiom @default.
- B7e93e971fa92db377744c6ee0f3016e8 annotatedProperty IAO_0000115 @default.
- B7e93e971fa92db377744c6ee0f3016e8 annotatedSource NCIT_C75862 @default.
- B7e93e971fa92db377744c6ee0f3016e8 annotatedTarget "Human NPHP1 wild-type allele is located in the vicinity of 2q13 and is approximately 83 kb in length. This allele, which encodes nephrocystin-1 protein, plays a role in the progression of adhesion-dependent signaling pathways. Mutations in the gene are associated with familial juvenile nephronophthisis type 1, Senior-Loken syndrome type 1, and Joubert syndrome type 4." @default.