coffin-lowry syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Coffin-Lowry syndrome
RPS6KA3 Causal
10094187 10319851 10528858 11180593 11992250 12439904 12558110 14986828 15214012 16691578 16879200 17100996 17717706 21614984 23261961 25044551 26043507 26297997 29678278 31400131 32858545 35038833 35888677 36125370 8955270 9837815 9887375
ClinGen
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with coffin-lowry syndrome.
5 View disease cluster →
Specific learning disability 1 shared geneRPS6KA3 Related via 1 shared gene including RPS6KA3. Coffin-siris syndrome 1 shared geneRPS6KA3 Related via 1 shared gene including RPS6KA3. Micrognathism 1 shared geneRPS6KA3 Related via 1 shared gene including RPS6KA3. Clinodactyly 1 shared geneRPS6KA3 Related via 1 shared gene including RPS6KA3. Ventricular septal defect 1 shared geneRPS6KA3 Related via 1 shared gene including RPS6KA3.