IL1RL1, interleukin 1 receptor like 1, 9173

N. diseases: 117; N. variants: 51
Disease: Cri-du-Chat Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome 		0.010 GeneticVariation disease BEFREE These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:p13-p15.1::p15.1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome. 8938060 1996