Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.300 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
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: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker disease HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 Biomarker disease HPO
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		0.100 Biomarker disease HPO
Entrez Id: 613
Gene Symbol: BCR
BCR 		0.100 Biomarker disease HPO
Entrez Id: 9210
Gene Symbol: BMP15
BMP15 		0.100 Biomarker disease HPO
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 Biomarker disease HPO
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.100 Biomarker disease HPO
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		0.100 Biomarker disease HPO
Entrez Id: 1272
Gene Symbol: CNTN1
CNTN1 		0.100 Biomarker disease HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 Biomarker disease HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 Biomarker disease HPO
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 Biomarker disease HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.100 Biomarker disease HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.100 Biomarker disease HPO
Entrez Id: 1399
Gene Symbol: CRKL
CRKL 		0.100 Biomarker disease HPO
Entrez Id: 1075
Gene Symbol: CTSC
CTSC 		0.100 Biomarker disease HPO
Entrez Id: 56603
Gene Symbol: CYP26B1
CYP26B1 		0.100 Biomarker disease HPO
Entrez Id: 29940
Gene Symbol: DSE
DSE 		0.100 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.120 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016