Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.410 GeneticVariation disease BEFREE Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development. 16282375 2005
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.410 Biomarker disease GENOMICS_ENGLAND Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 12567406 2003
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.410 Biomarker disease HPO
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.200 Biomarker disease MGD ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 25779931 2015
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.200 Biomarker disease MGD A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 24764192 2014
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.200 Biomarker disease MGD Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.200 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		0.110 GeneticVariation disease BEFREE We report a new HPE family, presenting a wide spectrum of clinical features, ranging from cyclopia to hypotelorism, in which a mutation was found for the first time in the SIX domain of SIX3: a GG insertion creates a frameshift leading to a nonsense mutation downstream in the homeodomain region. 11039582 2000
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		0.110 Biomarker disease HPO
Entrez Id: 84976
Gene Symbol: DISP1
DISP1 		0.100 Biomarker disease HPO
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1 		0.100 Biomarker disease HPO
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1 		0.100 Biomarker disease HPO
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.100 Biomarker disease HPO
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2 		0.100 Biomarker disease HPO
Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1 		0.100 Biomarker disease HPO
Entrez Id: 2619
Gene Symbol: GAS1
GAS1 		0.100 Biomarker disease HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 Biomarker disease HPO
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1 		0.100 Biomarker disease HPO
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 50937
Gene Symbol: CDON
CDON 		0.100 Biomarker disease HPO
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.100 Biomarker disease HPO
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.100 Biomarker disease HPO
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.100 Biomarker disease HPO
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		0.100 Biomarker disease HPO