SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: CULLER-JONES SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.020 GeneticVariation disease BEFREE The blaschkoid pattern implies mosaicism, and indeed CJS was found in 2016 to be caused by a recurrent postzygotic mutation in a gene of the hedgehog signalling pathway, namely SMO, c.1234C>T, p.Leu412Phe. 31120550 2020
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.020 GeneticVariation disease BEFREE A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. 28386950 2017