Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.510 Biomarker disease CTD_human Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model. 27585885 2016
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.510 GeneticVariation disease BEFREE We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. 17096318 2006
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.510 GermlineCausalMutation disease ORPHANET
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.500 Biomarker disease CTD_human Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model. 27585885 2016
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.500 Biomarker disease CTD_human NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos. 23264560 2013
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.500 Biomarker disease CTD_human NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos. 23264560 2013
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
Entrez Id: 2619
Gene Symbol: GAS1
GAS1 		0.500 Biomarker disease CTD_human Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. 17525797 2007
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1 		0.500 Biomarker disease CTD_human Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling. 16705179 2006
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.500 Biomarker disease CTD_human Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 15107988 2004
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1 		0.500 Biomarker disease CTD_human A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		0.500 Biomarker disease CTD_human Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 2619
Gene Symbol: GAS1
GAS1 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1 		0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.400 GeneticVariation disease ORPHANET Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.400 Biomarker disease HPO
Entrez Id: 57045
Gene Symbol: TWSG1
TWSG1 		0.300 Biomarker disease CTD_human The mammalian twisted gastrulation gene functions in foregut and craniofacial development. 15013800 2004
Entrez Id: 84976
Gene Symbol: DISP1
DISP1 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 50937
Gene Symbol: CDON
CDON 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2 		0.300 GermlineCausalMutation disease ORPHANET