SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 171; N. variants: 7
Disease: Schizencephaly ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.410 GeneticVariation disease BEFREE Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. 20157829 2010