IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Disease: Omenn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE The OS baby harbored a homozygous p.C118Y mutation in IL7R. 24759676 2014
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition. 16492442 2006
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE Molecular studies have shown that besides the well-known hypomorphic recombination activating gene defects, mutations in the nonhomologous end-joining factor Artemis and in the interleukin-7 receptor alpha chain can contribute to the development of Omenn syndrome. 16763459 2006
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GermlineCausalMutation disease ORPHANET