Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		0.100 Biomarker phenotype HPO
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		0.100 Biomarker phenotype HPO
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		0.100 Biomarker phenotype HPO
Entrez Id: 53
Gene Symbol: ACP2
ACP2 		0.100 Biomarker phenotype HPO
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. 16470787 2006
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1 		0.100 Biomarker phenotype HPO
Entrez Id: 196527
Gene Symbol: ANO6
ANO6 		0.100 Biomarker phenotype HPO
Entrez Id: 375
Gene Symbol: ARF1
ARF1 		0.100 Biomarker phenotype HPO
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2 		0.100 Biomarker phenotype HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker phenotype HPO
Entrez Id: 493856
Gene Symbol: CISD2
CISD2 		0.100 Biomarker phenotype HPO
Entrez Id: 57511
Gene Symbol: COG6
COG6 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. 25845371 2015
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. 25845371 2015
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.300 Biomarker phenotype GENOMICS_ENGLAND Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		0.100 Biomarker phenotype HPO
Entrez Id: 2160
Gene Symbol: F11
F11 		0.100 CausalMutation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 2160
Gene Symbol: F11
F11 		0.100 Biomarker phenotype HPO
Entrez Id: 285441
Gene Symbol: F11-AS1
F11-AS1 		0.100 CausalMutation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 2155
Gene Symbol: F7
F7 		0.100 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 2155
Gene Symbol: F7
F7 		0.100 Biomarker phenotype HPO
Entrez Id: 2158
Gene Symbol: F9
F9 		0.100 Biomarker phenotype HPO
Entrez Id: 2184
Gene Symbol: FAH
FAH 		0.100 Biomarker phenotype HPO
Entrez Id: 9103
Gene Symbol: FCGR2C
FCGR2C 		0.100 Biomarker phenotype HPO