Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		0.110 GeneticVariation disease BEFREE We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. 22209248 2012
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B 		0.110 Biomarker disease BEFREE Osteoprotegerin or its signaling pathway may have a role in calcification of Bruch membrane and in the pathogenesis of angioid streaks. 20547946 2010
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		0.110 Biomarker disease BEFREE The ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6) is reported to be the causal gene for PXE, although there have been no reports on whether the ABCC6 gene is the causal gene for AS. 19284998 2009
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		0.110 Biomarker disease HPO
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		0.110 CausalMutation disease CLINVAR
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		0.110 Biomarker disease HPO
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B 		0.110 Biomarker disease HPO
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		0.100 Biomarker disease HPO
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 Biomarker disease HPO
Entrez Id: 2677
Gene Symbol: GGCX
GGCX 		0.100 Biomarker disease HPO
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2 		0.100 Biomarker disease HPO
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		0.010 Biomarker disease BEFREE OCT-A detection rate of CNV associated to AS was evaluated by two independent observers. 30250237 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		0.010 Biomarker disease BEFREE Photodynamic treatment or anti-vascular endothelial growth factor agents have been used for the treatment of angioid streaks, offering promising but short-term results. 30260918 2019
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1 		0.010 GeneticVariation disease LHGDN This second case of retinal angioid streaks reported in CDA I adds to the non-haematological features likely to be associated with this condition. 18081704 2008
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1 		0.010 GeneticVariation disease BEFREE Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). 18081704 2008