Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079 2002