SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Microphthalmia associated with colobomatous cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		0.300 GermlineCausalMutation phenotype ORPHANET Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 12503095 2003