Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE Homozygosity for inactivating mutations of HESX1 produces a complex phenotype that resembles septo-optic dysplasia. 10599689 1999
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 Biomarker disease MGD Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. 19093031 2009
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 Biomarker disease GENOMICS_ENGLAND Identification of HESX1 mutations in Kallmann syndrome. 23465708 2013
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease LHGDN Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. 14714741 2003
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. 26781211 2016
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. 17587179 2007
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. 20694410 2010
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE R53C mutation in the Hesx-1 homeodomain has recently been identified in some patients with SOD. 12203971 2002
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease LHGDN However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. 17587179 2007
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. 11891837 2002
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease CLINVAR Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain which destroyed its ability to bind target DNA. 9620767 1998
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 Biomarker disease GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE Sixty patients with sporadic CPHD without septo-optic dysplasia were screened for mutations in HESX1. 19844116 2009
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease LHGDN HESX1 and Septo-Optic Dysplasia. 12424431 2002
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease UNIPROT Mutations within HESX1 are a rare cause of SOD and hypopituitarism. 17148560 2007
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 GeneticVariation disease BEFREE Mutations within HESX1 are a rare cause of SOD and hypopituitarism. 17148560 2007
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 AlteredExpression disease BEFREE Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 CausalMutation disease CLINVAR
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		1.000 Biomarker disease MGD Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. 17360769 2007
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		0.420 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.420 GermlineCausalMutation disease ORPHANET Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. 22319038 2012
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.420 Biomarker disease HPO
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.420 GeneticVariation disease BEFREE We detected 5 PROKR2 variants in 11 patients with SOD/CH: novel p.G371R and previously reported p.A51T, p.R85L, p.L173R, and p.R268C-the latter 3 being known functionally deleterious variants. 23386640 2013
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		0.420 GeneticVariation disease BEFREE More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD. 17587179 2007