| 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 |
- |