Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
0.010 GeneticVariation disease BEFREE The translation of this mRNA yields a mutant protein product (ARH-26) lacking 26 amino acids, resulting in the loss of beta-strands beta6 and beta7 from the PTB domain. 15599766 2005