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Entry Name Description Category Pathway Gene
H00101 Other phagocyte defects Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ... Primary immunodeficiency CHS1 [HSA:1130] [KO:K22937]
MYO5A [HSA:4644] [KO:K10357]
RAB27A [HSA:5873] [KO:K07885]
MLPH [HSA:79083] [KO:K22235]
ACTB [HSA:60] [KO:K05692]
CEBPE [HSA:1053] [KO:K10051]
MPO [HSA:4353] [KO:K10789]
G6PD [HSA:2539] [KO:K00036]
SBDS [HSA:51119] [KO:K14574]
H01255 Juvenile-onset dystonia ... phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities ... Congenital malformation hsa04145 Phagosome
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
hsa04810 Regulation of actin cytoskeleton
ACTB [HSA:60] [KO:K05692]
H02023 Baraitser-Winter syndrome ... metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1. Congenital malformation hsa04810 Regulation of actin cytoskeleton (BRWS1) ACTB [HSA:60] [KO:K05692]
(BRWS2) ACTG1 [HSA:71] [KO:K05692]
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