Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.510 None 1.000 0 0 2006 2016
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1
teratocarcinoma-derived growth factor 1 0.584 0.731 9.2E-11
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 2002 2002
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 1999 1999
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 2004 2016
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
TGFB induced factor homeobox 1 0.588 0.769 1.0E-02
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 2006 2006
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
nodal growth differentiation factor 0.588 0.731 0.97
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 2013 2013
Entrez Id: 2619
Gene Symbol: GAS1
GAS1
growth arrest specific 1 0.587 0.654 0.82
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.500 None 1.000 0 0 2007 2007
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
Zic family member 2 0.556 0.769 0.97
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 84976
Gene Symbol: DISP1
DISP1
dispatched RND transporter family member 1 0.644 0.692 8.9E-08
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0
Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1
forkhead box H1 0.615 0.654 4.2E-02
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.300 None 0 0