Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ovotesticular Disorders of Sex Development
0.020 GeneticVariation disease BEFREE Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. 29575617 2018
Ovotesticular Disorders of Sex Development
0.020 GeneticVariation disease LHGDN Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. 18085567 2008