Disease Term Disease ID Gene Symbol Classification References Source
Combined immunodeficiency due to CD27 deficiency 238505 CD27 Causal Pathogenic evidence from ClinVar - ClinVar
LYMPHOPROLIFERATIVE SYNDROME 2 C3554540 CD27 Causal Pathogenic evidence from ClinVar 22197273, 22801960, 25843314 ClinVar
CD27-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Combined immunodeficiency due to ITK deficiency 538963 ITK Causal Pathogenic evidence from ClinVar - ClinVar
LYMPHOPROLIFERATIVE SYNDROME 1 C3552634 ITK Causal Pathogenic evidence from ClinVar 9311799, 19425169, 21109689, 22289921, 22487848, 25061172, 26056787 ClinVar
Autoimmune Lymphoproliferative Syndrome, Type IIA C1858968 CASP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10412980, 16611303 -
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant C2717884 CASP8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15877736, 17674358 -
FASLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17517660 -
Combined immunodeficiency due to CD70 deficiency 538958 CD70 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Lymphoproliferative Disorders C0024314 CD70 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
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 -
IL2RG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MCM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NRAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLAA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SH2D1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10229804 -
XIAP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ZAP70 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LYMPHOPROLIFERATIVE SYNDROME 3 C4748863 CD70 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28011863, 28011864, 29434583 -
Lymphoproliferative Syndrome, X-Linked, 2 C1845076 XIAP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21119115, 21281876, 22228567, 23131490, 24084330, 27537055, 29312354 -