Disease Term Disease ID Gene Symbol References
Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689 CD40LG 10484640, 17351759, 7679206, 7678782, 7717401, 9746782, 15611226, 25541662, 7916370, 15623492, 27189378, 9150729, 31331973, 15924140, 7679801, 19575287, 8889581, 8094231, 8550833, 22678466, 7532185, 20591076, 15358621, 1427881, 26545377, 29077208
Hyper-IgM Immunodeficiency Syndrome, Type 2 C1720956 CD40
UNG
AICDA 27716525, 23803409, 27701145, 11007475, 14962793, 26545377
Hyper-IgM Immunodeficiency Syndrome, Type 3 C1720957 CD40 11675497, 17502893, 26545377
UNG
AICDA
Hyper-IgM Immunodeficiency Syndrome, Type 5 C1720958 CD40
UNG 12958596, 15967827
AICDA