IL36RN, interleukin 36 receptor antagonist, 26525

N. diseases: 47; N. variants: 22
Disease: Achondroplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144478519
rs144478519
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN
CUI: C0001080
Disease:
Achondroplasia 		0.010 GeneticVariation 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