Source: GENOMICS_ENGLAND

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: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.700 None 1.000 2 0 1994 2018
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.700 strong 1.000 0 0 2003 2019
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
TGFB induced factor homeobox 1 0.588 0.769 1.0E-02
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.700 strong 1.000 0 0 1995 2018
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.700 strong 1.000 0 0 1996 2018
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
nodal growth differentiation factor 0.588 0.731 0.97
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.620 limited 1.000 1 0 2008 2016
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
Zic family member 2 0.556 0.769 0.97
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.500 None 1.000 0 0 1998 2020
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.460 None 1.000 1 0 2003 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.460 strong 1.000 0 0 2002 2019
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.450 strong 1.000 1 0 2010 2018
Entrez Id: 84976
Gene Symbol: DISP1
DISP1
dispatched RND transporter family member 1 0.644 0.692 8.9E-08
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.430 strong 1.000 1 0 2007 2016
Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1
forkhead box H1 0.615 0.654 4.2E-02
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.420 limited 1.000 1 0 2008 2016
Entrez Id: 3244
Gene Symbol: HPE1
HPE1
holoprosencephaly 1, alobar 0.890 0.115
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.310 None 1.000 0 0 1995 1995
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1 0.650 0.577 2.5E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.300 limited 0 0