SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Cyclocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.410 GeneticVariation disease BEFREE Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development. 16282375 2005
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.410 Biomarker disease GENOMICS_ENGLAND Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 12567406 2003
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.410 Biomarker disease HPO