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: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease 1.000 None 0.994 20 72 1990 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease 0.700 None 0.957 12 12 1993 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.410 strong 1.000 1 4 2000 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		disease 0.100 None 0 4