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: 1203
Gene Symbol: CLN5
CLN5 		CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		disease 0.970 None 1.000 14 56 1998 2019
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease 0.400 None 1.000 13 14 1996 2019
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		phenotype 0.100 None 0 3