Disease

Treacher Collins Syndrome

About the Disease
Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type and acrofacial dysostosis, cincinnati type. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Pyrimidine metabolism and RNA Polymerase I Transcription Termination. The drugs Cimetidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and thymus, and related phenotypes are skeletal dysplasia and open bite

Common Targets
POLR1D | CALM1 | MKI67 | TCOF1 | ESCO2 | RPS26 | RPS28 | TSR2 | EFTUD2 | EDNRA | POLR1C

疾病靶点研报
Treacher Collins Syndrome

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