IL20, interleukin 20, 50604

N. diseases: 111; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 GeneticVariation disease BEFREE Our previous studies mapped a T104M mutation in interleukin-20 receptor beta (<i>IL-20RB</i>) in a family with primary open angle glaucoma (POAG). 31205408 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 GeneticVariation disease BEFREE In particular, our lab recently identified a T104M mutation in IL-20 receptor-B (IL-20RB) in primary open angle glaucoma patients from a large pedigree. 26903709 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.030 GeneticVariation disease BEFREE A T104M mutation in IL20-R2 was identified in a large POAG family in which the GLC1C locus was originally mapped. pHDFs harboring this mutation had significantly increased phosphorylated STAT3 (pSTAT3) activity compared with normal HDFs. 24455976 2014