Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.140 GeneticVariation disease BEFREE Duplications and polyalanine expansions within the transcription factor SOX3 have recently been described in association with infundibular hypoplasia, hypopituitarism and variable mental retardation, whilst mutations in SOX2 are associated with variable hypopituitarism in association with learning difficulties, oesophageal atresia and anophthalmia. 18174732 2007
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.140 GeneticVariation disease BEFREE Clinical evaluation revealed that, in addition to bilateral eye defects, SOX2 mutations were associated with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, sensorineural hearing loss, and esophageal atresia. 16932809 2006
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.140 Biomarker disease BEFREE We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. 16892407 2006
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.140 GeneticVariation disease BEFREE A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2. 16543359 2006
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.140 Biomarker disease HPO
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.110 GeneticVariation disease BEFREE Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. 21224895 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 Biomarker disease BEFREE However, several genes involved in SOA have been recently identified, namely N-MYC, SOX2, and CHD7 involved in Feingold (MIM 164280), anophthalmia-oesophageal-genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group. 17489843 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 CausalMutation disease CLINVAR
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.110 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 Biomarker disease HPO
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.110 GeneticVariation disease CLINVAR
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.100 Biomarker disease HPO
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
0.100 Biomarker disease HPO
Entrez Id: 89891
Gene Symbol: WDR34
WDR34
0.100 Biomarker disease HPO
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.100 Biomarker disease HPO
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.100 Biomarker disease HPO
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
0.100 Biomarker disease HPO
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
0.100 Biomarker disease HPO
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
0.100 Biomarker disease HPO
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
0.100 Biomarker disease HPO
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
0.100 Biomarker disease HPO
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
0.100 Biomarker disease HPO
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
0.100 Biomarker disease HPO
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
0.100 Biomarker disease HPO
Entrez Id: 4990
Gene Symbol: SIX6
SIX6
0.100 Biomarker disease HPO