Source: CLINVAR

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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.700 None 1.000 0 6 1994 2020
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4 		ADAMTS like 4 0.656 0.577 2.6E-28
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.480 None 1.000 4 1 2009 2019
Entrez Id: 100289061
Gene Symbol: ADAMTSL4-AS2
ADAMTSL4-AS2 		ADAMTSL4 antisense RNA 2 0.890 0.154
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.100 None 1.000 4 1 2010 2017