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Entry Name Description Category Pathway Gene
H00779 Usher syndrome ... USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported. Nervous system disease (USH1B) MYO7A [HSA:4647] [KO:K10359]
(USH1C) USH1C [HSA:10083] [KO:K21877]
(USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
(USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
(USH1G) USH1G [HSA:124590] [KO:K21878]
(USH1J) CIB2 [HSA:10518] [KO:K23837]
(USH1M) ESPN [HSA:83715] [KO:K24047]
(USH2A) USH2A [HSA:7399] [KO:K19636]
(USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
(USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
(USH2D) WHRN [HSA:25861] [KO:K21879]
(USH3A) CLRN1 [HSA:7401] [KO:K23841]
(USH3B) HARS [HSA:3035] [KO:K01892]
(USH4) ARSG [HSA:22901] [KO:K12381]
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