Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease BEFREE The purpose of this study was to determine whether DNA sequence variants in the human TGIF gene are causally related to MYP2-associated high myopia. 15223781 2004
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: C1834531
Disease: MYOPIA 2 (disorder)
MYOPIA 2 (disorder) 		0.010 GeneticVariation disease BEFREE Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 15723005 2005
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.020 Biomarker group BEFREE Higher levels of myopia, usually defined as an axial eye length of >26 mm or a refractive error of < -5.00 diopters are often designated as 'pathologic' myopia, because of the predisposition to develop further eye disorders such as retinal detachment, macular degeneration, cataract, or glaucoma. 18360688 2008
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.020 Biomarker disease BEFREE Higher levels of myopia, usually defined as an axial eye length of >26 mm or a refractive error of < -5.00 diopters are often designated as 'pathologic' myopia, because of the predisposition to develop further eye disorders such as retinal detachment, macular degeneration, cataract, or glaucoma. 18360688 2008
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE Higher levels of myopia, usually defined as an axial eye length of >26 mm or a refractive error of < -5.00 diopters are often designated as 'pathologic' myopia, because of the predisposition to develop further eye disorders such as retinal detachment, macular degeneration, cataract, or glaucoma. 18360688 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.040 GeneticVariation disease BEFREE Particularly, age-related macular degeneration (AMD) and pathologic myopia (PM) are the most frequent diseases related to CNV development. 20887247 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.040 Biomarker disease BEFREE The study population included patients affected by subfoveal CNV secondary to AMD or PM. 26307969 2015
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease BEFREE These approaches should enable the current epidemics of myopia and high myopia to be turned around, preventing an explosion of pathologic myopia. 27617538 2017
CUI: C0027092
Disease: Myopia
Myopia 		0.090 Biomarker disease BEFREE Similarly, the presence of myopic fundus lesions in addition to a high degree of myopia has been used to define pathologic myopia; however, such lesions often develop with age and they are not characteristic of pathologic myopia. 27755375 2017
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		0.040 Biomarker disease BEFREE So, what is pathologic myopia?This review covers the various proposed definitions for pathologic myopia, and describes its major features such as posterior staphyloma, variation in axial length, and the presence of myopic maculopathy. 27755375 2017
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		0.040 Biomarker group BEFREE So, what is pathologic myopia?This review covers the various proposed definitions for pathologic myopia, and describes its major features such as posterior staphyloma, variation in axial length, and the presence of myopic maculopathy. 27755375 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE Myopic retinopathy was defined according to the Pathologic Myopia Study Group. 27860316 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.030 GeneticVariation disease BEFREE Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia. 27995965 2016
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: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		0.040 GeneticVariation disease BEFREE Preoperative OCT examination resulted in the exclusion of 8 eyes in 4 patients with bilateral posterior staphyloma diagnosing unexpected staphylomatous macular patterns in 2 patients with RP and no sign of pathologic myopia. 28009400 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.030 Biomarker disease BEFREE Preoperative OCT examination resulted in the exclusion of 8 eyes in 4 patients with bilateral posterior staphyloma diagnosing unexpected staphylomatous macular patterns in 2 patients with RP and no sign of pathologic myopia. 28009400 2017
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		0.010 Biomarker disease BEFREE SUBTHRESHOLD LASER TREATMENT FOR SEROUS RETINAL DETACHMENT IN DOME-SHAPED MACULA ASSOCIATED WITH PATHOLOGIC MYOPIA. 28145971 2018
CUI: C0027092
Disease: Myopia
Myopia 		0.090 Biomarker disease BEFREE Pathologic myopia (PM), a possible consequence of myopia, is estimated to affect up to 3% of the global population. 28655539 2017
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		0.010 Biomarker disease BEFREE We carried out a literature review (September 2015) of all English-language articles in PubMed resulting from searches of the following terms: "choroidal neovascularization" AND "myopia" OR "myopic macular degeneration" OR "degenerative myopia" OR "myopic maculopathy" OR "myopic retinopathy" OR "pathological myopia" OR "pathologic myopia." 28655539 2017
CUI: C0730271
Disease: Myopic macular degeneration
Myopic macular degeneration 		0.010 GeneticVariation disease BEFREE We carried out a literature review (September 2015) of all English-language articles in PubMed resulting from searches of the following terms: "choroidal neovascularization" AND "myopia" OR "myopic macular degeneration" OR "degenerative myopia" OR "myopic maculopathy" OR "myopic retinopathy" OR "pathological myopia" OR "pathologic myopia." 28655539 2017
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: C0456909
Disease: Blindness
Blindness 		0.040 Biomarker phenotype BEFREE Development of myopic choroidal neovascularization (CNV) is one of the most common complications that leads to central vision loss in patients with pathologic myopia. 29111299 2018
CUI: C3665926
Disease: Myopic choroidal neovascularization
Myopic choroidal neovascularization 		0.040 GeneticVariation disease BEFREE Diagnosis and treatment guideline for myopic choroidal neovascularization due to pathologic myopia. 29111299 2018