Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 54903
Gene Symbol: MKS1
MKS1 		0.100 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker disease HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.100 Biomarker disease HPO
Entrez Id: 90381
Gene Symbol: TICRR
TICRR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.100 Biomarker disease HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 Biomarker disease HPO
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		0.100 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker disease HPO
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		0.100 Biomarker disease HPO
Entrez Id: 3670
Gene Symbol: ISL1
ISL1 		0.100 Biomarker disease HPO
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker disease HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker disease HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 Biomarker disease HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		0.100 Biomarker disease HPO
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 Biomarker disease HPO
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		0.100 Biomarker disease HPO
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.100 Biomarker disease HPO
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A 		0.100 Biomarker disease HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 Biomarker disease HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 Biomarker disease HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker disease HPO