Agammaglobulinemia

Disease Term Disease ID Gene Symbol Classification References Source
Agammaglobulinemia C0001768 BLNK Causal Pathogenic evidence from ClinVar 25893637 ClinVar
BTK Causal Pathogenic evidence from ClinVar 10352268, 15142874 ClinVar
CD79A Causal Pathogenic evidence from ClinVar 19302039 ClinVar
CD79B Causal Pathogenic evidence from ClinVar 24722855 ClinVar
IGHM Causal Pathogenic evidence from ClinVar 12370281 ClinVar
TCF3 Causal Pathogenic evidence from ClinVar 29114388 ClinVar
CD19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16672701 -
CDCA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CIITA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HELLS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IGLL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27576013 -
IKBKB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IL2RG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LRRC8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25488983 -
RFX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RFXANK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RFXAP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SH3KBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC39A7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30718914 -
TCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10518276, 18956254, 18956255 -
TIMM8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE C3150752 BLNK Causal Pathogenic evidence from ClinVar 25893637 ClinVar
Agammaglobulinemia, non-Bruton type C1832241 BLNK Causal Pathogenic evidence from ClinVar 10583958 ClinVar
CD79A Causal Pathogenic evidence from ClinVar 11920841 ClinVar
CD79B Causal Pathogenic evidence from ClinVar 17675462, 17709424 ClinVar
IGHM Causal Pathogenic evidence from ClinVar 8890099 ClinVar
TCF3 Causal Pathogenic evidence from ClinVar 24216514 ClinVar
IGLL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9419212 -
LRRC8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14660746 -
PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22351933 -
Autosomal agammaglobulinemia 33110 BLNK Causal Pathogenic evidence from ClinVar - ClinVar
CD79A Causal Pathogenic evidence from ClinVar - ClinVar
CD79B Causal Pathogenic evidence from ClinVar - ClinVar
IGHM Causal Pathogenic evidence from ClinVar - ClinVar
TCF3 Causal Pathogenic evidence from ClinVar - ClinVar
IGLL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LRRC8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE C3152144 BTK Causal Pathogenic evidence from ClinVar - ClinVar
IGHM Causal Pathogenic evidence from ClinVar 12370281 ClinVar
AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE C3150751 CD79A Causal Pathogenic evidence from ClinVar 19302039 ClinVar
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE C3150207 CD79B Causal Pathogenic evidence from ClinVar 17675462, 24722855 ClinVar
AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT C4310786 TCF3 Causal Pathogenic evidence from ClinVar 29114388 ClinVar
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE C3150750 IGLL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9419212, 27576013 -
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT C3150753 LRRC8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE C3554689 PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26974159, 27766312, 28632845 -