Disease Term Disease ID Gene Symbol References
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive C1837028 IL7R 16492442, 27833609, 17827065, 11023514, 26123418, 15661025, 21664875, 24759676, 9843216, 25046553
PTPRC 11145714, 10700239
Severe combined immunodeficiency with sensitivity to ionizing radiation C1865370 LIG4 16357942
DCLRE1C 11336668, 12592555, 12921762, 19953608, 12406895, 12569164, 12055248, 25917813, 21147755