rs750610248, BCL11B

N. diseases: 3
Disease: IMMUNODEFICIENCY 49 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY 49
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
0.800 GeneticVariation UNIPROT BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 29985992 2018
IMMUNODEFICIENCY 49
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
0.800 GeneticVariation UNIPROT Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. 27959755 2016
IMMUNODEFICIENCY 49
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
0.800 CausalMutation CLINVAR