IL36RN, interleukin 36 receptor antagonist, 26525

N. diseases: 47; N. variants: 22
Disease: Achondroplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.010 GeneticVariation disease BEFREE Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP. 23428889 2013