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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease 0.100 None 0 1
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease 0.100 None 0 3