FOXH1, forkhead box H1, 8928

N. diseases: 67; N. variants: 3
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 Biomarker disease GENOMICS_ENGLAND Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 GeneticVariation disease BEFREE Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene mutations: up to date, nine genes (SHH, ZIC2, SIX3, TGIF, PATCHED1, TDGF1/CRIPTO, FAST1, GLI2 and DHCR) are definitely associated with HPE, but many others candidate gene are under investigation. 21183895 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 Biomarker disease BEFREE Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. 18538293 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 GeneticVariation disease LHGDN Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. 18538293 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.420 Biomarker disease GENOMICS_ENGLAND