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: 23384
Gene Symbol: SPECC1L
SPECC1L 		sperm antigen with calponin homology and coiled-coil domains 1 like 0.593 0.654 0.86
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		disease 0.720 None 1.000 0 1 2011 2019
Entrez Id: 101730217
Gene Symbol: SPECC1L-ADORA2A
SPECC1L-ADORA2A 		SPECC1L-ADORA2A readthrough (NMD candidate) 0.890 0.231
CUI: C1838348
Disease: Oculomaxillofacial dysostosis
Oculomaxillofacial dysostosis 		disease 0.100 None 0 1