Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene. 29353703 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE Skin biopsies were obtained from two Japanese patients with CGL harboring different nonsense mutations (E189X and R275X) in BSCL2/SEIPIN. 26975546 2016