X-linked lymphoproliferative syndrome

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO SAP DEFICIENCY
538931
SH2D1A Unknown
20301580 28196537
Orphanet
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO SH2D1A DEFICIENCY
MONDO:0024551
SH2D1A Causal
11049992 11159547 12966553 20632414 23829589 29705247 9774102 9811875
ClinGen ClinVar GWAS catalog
XIAP Unknown — ClinVar
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO XIAP DEFICIENCY
538934MONDO:0010385
XIAP Causal
17080092 20301580 21119115 25666262
ClinVar GWAS catalog Orphanet
X-LINKED LYMPHOPROLIFERATIVE SYNDROME
MONDO:0010627
SH2D1A Causal — ClinVar
XIAP Unknown — ClinVar