Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.700 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.700 GeneticVariation disease CLINVAR Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 23403903 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.700 GeneticVariation disease UNIPROT Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 14638541 2003
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.700 Biomarker disease CTD_human
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.200 Biomarker disease MGD Role of collagen type II and perlecan in skeletal development. 12814946 2003
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.200 Biomarker disease MGD Development of the coronary arteries in a murine model of transposition of great arteries. 12818570 2003
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.200 Biomarker disease MGD Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. 12142349 2002
Entrez Id: 1856
Gene Symbol: DVL2
DVL2 		0.200 Biomarker disease MGD Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. 12421720 2002
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.200 Biomarker disease MGD Perlecan maintains the integrity of cartilage and some basement membranes. 10579729 1999
Entrez Id: 55997
Gene Symbol: CFC1
CFC1 		0.200 Biomarker disease MGD A role of the cryptic gene in the correct establishment of the left-right axis. 10574770 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		0.200 Biomarker disease MGD A role of the cryptic gene in the correct establishment of the left-right axis. 10574770 1999
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.010 Biomarker disease BEFREE At last MUGA follow-up: 6 (33%) cc-TGA/14 (36%) d-TGA patients showed a significant decline in sRVEF (>5%); 6 (33%) cc-TGA/17 (44%) d-TGA patients had a significant increase in sRVEDVi; and 7 (39%) cc-TGA/19 (49%) PA-TGA patients had a significant increase in sRVESVi. 28818352 2017