SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Disease: Hydrophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 GeneticVariation disease BEFREE In both humans and mice, mutations disrupting function of the SH3PXD2B adaptor protein cause a developmental syndrome including secondary congenital glaucoma. 31211954 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO