Source: ORPHANET

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: 23384
Gene Symbol: SPECC1L
SPECC1L 		sperm antigen with calponin homology and coiled-coil domains 1 like 0.593 0.654 0.86
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		patched 2 0.563 0.692 3.4E-16
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.300 None 1.000 1 0 2009 2009