Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia
0.010 Biomarker disease BEFREE RETINAL TELANGIECTASIA IN PATIENTS WITH PATHOLOGIC MYOPIA: A CASE SERIES. 29232337 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE High myopia and pathologic myopia are common causes of visual morbidity. 30030628 2018
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Myopia is a highly frequent ocular disorder worldwide and pathologic myopia is the 4th most common cause of irreversible blindness in developed countries. 30391362 2019
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum
0.040 Biomarker disease BEFREE Posterior staphyloma in pathologic myopia. 30537538 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE High myopia may develop to pathologic myopia, which brings severe visual impairment; however, the etiology is not fully understood. 31547036 2019
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. 28837730 2017
CUI: C0042798
Disease: Low Vision
Low Vision
0.010 Biomarker disease BEFREE Pathologic myopia is a leading cause of visual impairment in East Asia. 30747064 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 GeneticVariation disease BEFREE A genomic interval of 2.2 centiMorgans (cM) was defined on chromosome band 18p11.31 using 7 families diagnosed with autosomal dominant high myopia and was designated the MYP2 locus. 15723005 2005
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 GeneticVariation disease BEFREE A recent linkage analysis of seven families with autosomal dominant high myopia has identified one locus (MYP2) for high myopia on chromosome 18p11.31 (Young et al.: Am J Hum Genet 1998;63:109-119). 11449316 2001
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
0.010 Biomarker disease BEFREE All members of this RP-PM family underwent a complete ophthalmic examination. 27995965 2016
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Although the terms high myopia and pathologic myopia are often used interchangeably, they do not refer to the same eye disease. 30391362 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.020 Biomarker group BEFREE Although the terms high myopia and pathologic myopia are often used interchangeably, they do not refer to the same eye disease. 30391362 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
0.020 GeneticVariation disease BEFREE Amniotic membrane for retinal detachment due to paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia. 31766876 2020
CUI: C0035321
Disease: Retinal Perforations
Retinal Perforations
0.010 Biomarker group BEFREE Amniotic membrane for retinal detachment due to paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia. 31766876 2020
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy
0.030 Biomarker disease BEFREE Amniotic membrane for retinal detachment due to paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia. 31766876 2020
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Among all the patients with different types of refractive errors, myopia was found in 47.4%, high myopia in 6.8% and pathologic myopia in 2.2%. 30209314 2018
CUI: C0027092
Disease: Myopia
Myopia
0.090 Biomarker disease BEFREE Approaches to prevent myopia-related blindness should therefore attempt to prevent or delay the onset of myopia among children by increased outdoor time; retard progression from low/mild myopia to HM, through optical (e.g., defocus incorporated soft contact lens, orthokeratology, and progressive-additional lenses) and pharmacological (e.g., low dose of atropine) interventions; and/or retard progression from HM to PM through medical/surgical treatments (e.g., anti-VEGF therapies, macula buckling, and scleral crosslinking). 30707221 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease BEFREE Approaches to prevent myopia-related blindness should therefore attempt to prevent or delay the onset of myopia among children by increased outdoor time; retard progression from low/mild myopia to HM, through optical (e.g., defocus incorporated soft contact lens, orthokeratology, and progressive-additional lenses) and pharmacological (e.g., low dose of atropine) interventions; and/or retard progression from HM to PM through medical/surgical treatments (e.g., anti-VEGF therapies, macula buckling, and scleral crosslinking). 30707221 2019
CUI: C0154841
Disease: Central retinal vein occlusion
Central retinal vein occlusion
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
CUI: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema
0.010 GeneticVariation disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
Exudative age-related macular degeneration
0.030 Biomarker disease BEFREE Aqueous humour from eyes with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO), diabetic macular oedema (DME), neovascular age-related macular degeneration (nAMD) or pathologic myopia associated choroidal neovascularization (pmCNV) was sampled prior to 1st (n = 144) and 2nd (n = 48) intravitreal anti-VEGF therapy. 31531945 2019
Exudative age-related macular degeneration
0.030 GeneticVariation disease BEFREE Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. 30727875 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.040 Biomarker disease BEFREE Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. 30727875 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.010 Biomarker disease BEFREE Choroidal neovascularization (CNV) in adults is most commonly associated with neovascular age-related macular degeneration (AMD) and pathologic myopia. 30727875 2018