Source: BEFREE

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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		phenotype 0.110 None 1.000 1 0 2010 2010
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		phenotype 0.010 None 1.000 1 0 2008 2008