LDHB, lactate dehydrogenase B, 3945

N. diseases: 74; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
0.010 GeneticVariation phenotype BEFREE Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect. 3476222 1987