Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3110
Gene Symbol: MNX1
MNX1
0.100 Biomarker disease HPO
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease HPO
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
0.100 Biomarker disease HPO
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
0.100 Biomarker disease HPO
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
0.100 Biomarker disease HPO
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
0.100 Biomarker disease HPO
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.100 Biomarker disease HPO
Entrez Id: 151188
Gene Symbol: ARL6IP6
ARL6IP6
0.100 Biomarker disease HPO
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
0.100 Biomarker disease HPO
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.100 Biomarker disease HPO
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
0.100 Biomarker disease HPO
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
0.100 Biomarker disease HPO
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
0.100 Biomarker disease HPO
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
0.100 Biomarker disease HPO
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
0.100 Biomarker disease HPO
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
0.100 Biomarker disease HPO
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.100 Biomarker disease HPO
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.010 AlteredExpression disease BEFREE By contrast, fibronectin expression was more prominent in CMs than in AVMs. 8727816 1996
Entrez Id: 2247
Gene Symbol: FGF2
FGF2
0.010 AlteredExpression disease BEFREE Four of seven AVMs and four of five CMs demonstrated faint basic fibroblast growth factor expression that was localized to the media of AVM vessels and the subendothelial layer and intercavernous matrix of CMs. 8727816 1996
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.100 GeneticVariation disease BEFREE Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 8728706 1996
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 AlteredExpression disease BEFREE The significant upregulation of VEGF and Tie in AVMs may indicate some ongoing angiogenesis, possibly contributing to the slow growth and maintenance of the AVM, and could be of potential use in the therapeutic targeting of these lesions. 8939195 1996
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.020 Biomarker disease BEFREE Together, these results demonstrate that the ppET-1 gene is locally repressed in AVM lesions and suggest a role for abnormal ppET-1 gene regulation in the pathogenesis and clinical sequelae of cerebral AVMs. 8988087 1997
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
0.010 AlteredExpression disease BEFREE The authors also showed that ETA receptor expression was low in AVM vasculature compared to normal controls. 8988087 1997
Entrez Id: 2022
Gene Symbol: ENG
ENG
0.100 Biomarker disease BEFREE A reduction in the level of functional endoglin is thus involved in the generation of HHT1, and associated arteriovenous malformations. 9366572 1997
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
0.010 Biomarker disease BEFREE The aim of this study was to evaluate the expression of TGF-beta 1, TGF-beta 2, TGF-beta 3, and their two receptors (R1 and R2) in AVMs and in normal brain vessels. 10235000 1998