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Entry Name Description Category Pathway Gene
H02022 Griscelli syndrome Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological ... Primary immunodeficiency (GS1) MYO5A [HSA:4644] [KO:K10357]
(GS2) RAB27A [HSA:5873] [KO:K07885]
(GS3) MLPH [HSA:79083] [KO:K22235]
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