Hyper-igm immunodeficiency syndrome

Disease Term Disease ID Gene Symbol Classification References Source
HYPER-IGM IMMUNODEFICIENCY SYNDROME
MESH:D053306
AICDA Unknown — CTD
CD40 Unknown — CTD
UNG Unknown — CTD
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1
C0398689MESH:D053307
CD40 Unknown — Disgenet
CD40LG Unknown
15611226
CTD Disgenet
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 2
C1720956
AICDA Unknown — Disgenet
TNFRSF13B Unknown — Disgenet
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 5
C1720958
UNG Unknown — Disgenet
HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
C1846008
G6PD Unknown — Disgenet
IKBKG Unknown — Disgenet
HYPER-IGM SYNDROME TYPE 1
MONDO:0010626
CD40LG Causal — ClinGen ClinVar GenCC
HYPER-IGM SYNDROME TYPE 2
101089MONDO:0011528
AICDA Causal
11007475
ClinGen ClinVar GenCC Orphanet
HYPER-IGM SYNDROME TYPE 3
101090MONDO:0011735
CD40 Causal
11675497 12584544 17502893 20702779 22443339 24122029 25511220 26545377 34623902 7534202
ClinGen ClinVar GWAS catalog Orphanet
HYPER-IGM SYNDROME TYPE 5
101092MONDO:0011971
UNG Causal
12958596 15494304 15967827 19302039 30337470
ClinGen ClinVar Disgenet Orphanet