Source: UNIPROT

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: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.740 None 1.000 3 21 1977 2017
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.710 None 1.000 1 1 2007 2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.710 None 1.000 1 2 2008 2017