Disease

Usher Syndrome

About the Disease
Retinitis Pigmentosa-Deafness Syndrome, also known as retinitis pigmentosa 21, formerly, is related to usher syndrome and deafness, autosomal recessive 83, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2), and among its related pathways/superpathways are Clear cell renal cell carcinoma pathways and Metabolic States and Circadian Oscillators. The drugs Varespladib methyl and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotype is hearing/vestibular/ear.

Common Targets
PEX26 | MTCL1 | ARSG | REEP6 | TECTA | UBR5 | MUC22 | GSTT1 | ABHD12 | CEP250 | ZSCAN12 | UBR3 | FBN2 | CEMIP2 | CERKL | LGALS4 | STAC3 | PRPF8 | PCDH15 | KRT18 | OR2T35 | ADGRV1 | CACNA2D4 | PRPF31 | LHB | PPFIA4 | UBR2 | EYS | ALMS1 | ASIC5 | WDR19 | DNAH17 | RNASEK | USH2A | PDZD7 | CEP89 | CIB2 | LRP2 | SSB | WHRN | CLRN1 | PEX1 | MYH7B | PDSS2 | DNAJB13 | CEACAM20 | USH1G | USH1C | GRN | ZNF793 | CDH23 | IFT140 | BBS1 | METAP1D | UBR1 | TMEM52 | KRTAP17-1 | CEP78 | HOMEZ | LILRB1 | MYO7A | MACF1

疾病靶点研报
Usher Syndrome

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