Disease Term Disease ID Gene Symbol Classification References Source
X-Linked Combined Immunodeficiency Diseases C1279481 IL2RG Causal Pathogenic evidence from ClinVar 2169613, 7557965, 7632950, 7668284, 7860773, 7883965, 7937790, 8027558, 8088810, 8299698, 8401490, 8900089, 8961626, 9049783, 9058718, 9150740, 9399950, 10794430, 11129345, 11213805, 14966353, 16760466, 17598841, 18641513, 21184155, 22039266, 23683512, 24534054, 25869287, 28747913 ClinVar