Disease: Glaucoma 3, Primary Congenital, D ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 20179738 2010
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND Null mutations in LTBP2 cause primary congenital glaucoma. 19361779 2009
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 19656777 2009
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease CTD_human
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 CausalMutation disease CLINVAR