Porokeratosis 3, disseminated superficial actinic type; POROK3

Disease ID:288
Name:Porokeratosis 3, disseminated superficial actinic type; POROK3
Associated with:1 target
Synonyms
Disseminated superficial actinic porokeratosis
Database Links
OMIM: 175900
Orphanet: ORPHA79152

Targets

mevalonate kinase
References:  1
Mutations:  mevalonate kinase is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for Porokeratosis 3, disseminated superficial actinic type; POROK3

References

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1. Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY et al.. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat. Genet., 44 (10): 1156-60. [PMID:22983302]