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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00101 | Other phagocyte defects | ... syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. GS is characterized by partial albinism, hepatosplenomegaly ... | Primary immunodeficiency | ||
| 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] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |