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: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		disease 0.800 None 1.000 11 65 2012 2018
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		disease 0.750 None 1.000 11 27 2012 2019
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.690 None 1.000 0 1 2012 2019
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease 0.400 None 1.000 0 2 2012 2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 6 1 2011 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 1 2011 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 1 2011 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0022346
Disease: Icterus
Icterus 		phenotype 0.100 None 0 3
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 4