Source: GENOMICS_ENGLAND

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: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1969053
Disease: JOUBERT SYNDROME 7
JOUBERT SYNDROME 7 		disease 0.900 None 1.000 3 0 2007 2015
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 3 0 2007 2010
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		disease 0.700 None 1.000 3 0 2007 2010
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.500 strong 1.000 0 0 2007 2007
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.480 None 0.909 1 0 2007 2017
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.370 None 1.000 1 0 2007 2015
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.370 None 1.000 0 0 2007 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 None 0 0