SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Lobar Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model. 27585885 2016
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 Biomarker disease CTD_human NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos. 23264560 2013
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 Biomarker disease CTD_human Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 15107988 2004
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET