Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.100 Biomarker disease HPO
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 Biomarker disease HPO
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		0.100 Biomarker disease HPO
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 Biomarker disease HPO
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker disease HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker disease HPO
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		0.100 Biomarker disease HPO
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		0.100 Biomarker disease HPO
Entrez Id: 55997
Gene Symbol: CFC1
CFC1 		0.100 Biomarker disease HPO
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3 		0.100 Biomarker disease HPO
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		0.100 Biomarker disease HPO
Entrez Id: 79827
Gene Symbol: CLMP
CLMP 		0.100 Biomarker disease HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.100 Biomarker disease HPO
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker disease HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		0.100 Biomarker disease HPO
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		0.100 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.100 Biomarker disease HPO
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.120 GeneticVariation disease BEFREE This clinical case is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of FOXF1, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation. 23407133 2013
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.120 GeneticVariation disease BEFREE In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. 19500772 2009
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		0.120 Biomarker disease HPO
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 Biomarker disease HPO