Disease: Microspherophakia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 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: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 GeneticVariation disease BEFREE Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family. 29751740 2018
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease BEFREE Homozygous mutations in LTBP2 have been found in humans with genetic eye diseases such as congenital glaucoma and microspherophakia, indicating a critical role of the protein in eye development, although the function of LTBP-2 in vivo has not been well understood. 24908666 2014
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 GeneticVariation disease BEFREE A homozygous mutation in LTBP2 causes isolated microspherophakia. 20617341 2010
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease HPO
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.440 Biomarker disease GENOMICS_ENGLAND