rs128621201, BTK

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked agammaglobulinemia with growth hormone deficiency
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
0.700 GeneticVariation CLINVAR Bruton tyrosine kinase gene mutations in Argentina. 12655572 2003
X-linked agammaglobulinemia with growth hormone deficiency
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
0.700 GeneticVariation CLINVAR Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. 11472359 2001
X-linked agammaglobulinemia with growth hormone deficiency
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
0.700 GeneticVariation CLINVAR Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721 1994
X-linked agammaglobulinemia
CUI: C0221026
Disease: X-linked agammaglobulinemia
0.700 CausalMutation CLINVAR
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR