rs137852696, PPT1

N. diseases: 3
Disease: Infantile neuronal ceroid lipofuscinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile neuronal ceroid lipofuscinosis
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
0.010 GeneticVariation BEFREE Two of the mutations (delPhe84 and insCys45) cause a classical INCL phenotype and two (Thr75Pro and Leu219Gln) result in a late onset disease phenotype. 11520175 2001