Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2 		latent transforming growth factor beta binding protein 2 0.572 0.692 7.4E-04
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		disease 0.440 None 0.750 0 0 2010 2019
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		disease 0.100 None 0 0