Disease: Congenital keratoglobus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.120 GeneticVariation disease BEFREE Recessive variants in LTBP2 are associated with eye-restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. 30565850 2019
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.120 GeneticVariation disease BEFREE LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 20179738 2010
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.120 Biomarker disease HPO