Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.510 GermlineCausalMutation ORPHANET

Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 2619
Gene Symbol: GAS1
GAS1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 6496
Gene Symbol: SIX3
SIX3
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation ORPHANET

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.400 GeneticVariation ORPHANET Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716

2016
Entrez Id: 84976
Gene Symbol: DISP1
DISP1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 50937
Gene Symbol: CDON
CDON
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 28514
Gene Symbol: DLL1
DLL1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation ORPHANET