Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.400 Biomarker phenotype GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.400 Biomarker phenotype HPO
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: 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: 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: 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: 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: 4089
Gene Symbol: SMAD4
SMAD4 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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: 2244
Gene Symbol: FGB
FGB 		0.100 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 2266
Gene Symbol: FGG
FGG 		0.100 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF 		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 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: 2243
Gene Symbol: FGA
FGA 		0.100 CausalMutation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF 		0.100 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		0.100 Biomarker phenotype HPO
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		0.100 Biomarker phenotype HPO
Entrez Id: 2266
Gene Symbol: FGG
FGG 		0.100 Biomarker phenotype HPO
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		0.100 Biomarker phenotype HPO
Entrez Id: 4351
Gene Symbol: MPI
MPI 		0.100 Biomarker phenotype HPO
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.100 Biomarker phenotype HPO
Entrez Id: 9103
Gene Symbol: FCGR2C
FCGR2C 		0.100 Biomarker phenotype HPO
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		0.100 Biomarker phenotype HPO