Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
0.320 GeneticVariation group BEFREE Our findings provide researchers and clinicians with a better understanding of phenotype-genotype correlations between EFS and 46, XY DSD and the LHCGR gene. 29912377 2018
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
0.320 Biomarker group BEFREE This paper describes the first application of prenatal diagnosis in LHCGR deficiency for 46,XY disorders of sex development with the subsequent delivery of a normal baby. 21720050 2011
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
0.320 Biomarker group CTD_human Steroidogenesis in the fetal testis and its susceptibility to disruption by exogenous compounds. 19887492 2009
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
0.320 Biomarker group CTD_human Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. 7719343 1995