X-linked lymphoproliferative syndrome

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO SAP DEFICIENCY
538931
SH2D1A Unknown — Orphanet
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO SH2D1A DEFICIENCY
MONDO:0024551
SH2D1A Causal — ClinGen ClinVar GWAS catalog
XIAP Unknown
26686323 26804200
ClinVar
X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO XIAP DEFICIENCY
538934MONDO:0010385
XIAP Causal
12379852 12874405
ClinVar GWAS catalog Orphanet
X-LINKED LYMPHOPROLIFERATIVE SYNDROME
MONDO:0010627
SH2D1A Causal
20301580 28196537
ClinVar
XIAP Unknown
11049992 11159547 12966553 20632414 23829589 29705247 9774102 9811875
ClinVar