Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome
0.010 GeneticVariation disease BEFREE We found that taste 2 receptor member 31 gene (TAS2R31) and phosphodiesterase 4D interacting protein gene (PDE4DIP) were recurrently mutated among LMD samples, suggesting involvement in LMD progression. 29604399 2018