Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bebe0eb90439d415ef5671430ec2b32f6> ?p ?o ?g. }
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- Bebe0eb90439d415ef5671430ec2b32f6 NCIT_P378 "NCI" @default.
- Bebe0eb90439d415ef5671430ec2b32f6 type Axiom @default.
- Bebe0eb90439d415ef5671430ec2b32f6 annotatedProperty IAO_0000115 @default.
- Bebe0eb90439d415ef5671430ec2b32f6 annotatedSource NCIT_C172639 @default.
- Bebe0eb90439d415ef5671430ec2b32f6 annotatedTarget "A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi /melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018)" @default.