Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.020 GeneticVariation disease BEFREE Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. 29137650 2017
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.020 GeneticVariation disease BEFREE Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. 29221463 2017