Source: INFERRED

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 19 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 0 4 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 0 2 2007 2010
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 7 14 2007 2017
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease 0.420 None 1.000 7 11 2007 2015
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group 0.410 None 1.000 0 0 2007 2007
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.140 None 1.000 0 0 2007 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease 0.110 None 1.000 1 1 2013 2013
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 3 2 2018 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease 0.100 None 0 0