Disease Term Disease ID Gene Symbol Classification References Source
X-linked lymphoproliferative disease due to SH2D1A deficiency 538931 SH2D1A Causal Pathogenic evidence from ClinVar - ClinVar
X-Linked Lymphoproliferative Disorder C0549463 SH2D1A Causal Pathogenic evidence from ClinVar 9771704, 9774102, 9811875, 10229804, 10598819, 10694488, 10934222, 11034354, 11049992, 11159547, 11414741, 11477068, 11493483, 11823424, 12224001, 12458214, 14583885, 14674764, 15359110, 15661030, 15841490, 15908972, 16720617, 21707584, 22493517, 24985396, 27209435, 28196537 ClinVar
XIAP Causal Pathogenic evidence from ClinVar - ClinVar
IFNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22617429 -
IL17A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22617429 -
STAG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9771704, 9811875, 10598819, 10694488, 10934222, 11159547, 11414741, 11493483, 12224001, 14583885, 15359110, 15661030, 15908972, 21707584, 22493517, 24985396, 27209435 -
X-linked lymphoproliferative disease due to XIAP deficiency 538934 XIAP Causal Pathogenic evidence from ClinVar - ClinVar