Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3570
Gene Symbol: IL6R
IL6R
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. 31235509 2019
Entrez Id: 3572
Gene Symbol: IL6ST
IL6ST
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. 31235509 2019
Entrez Id: 931
Gene Symbol: MS4A1
MS4A1
0.300 Biomarker phenotype GENOMICS_ENGLAND Genes associated with common variable immunodeficiency: one diagnosis to rule them all? 27250108 2016
Entrez Id: 5971
Gene Symbol: RELB
RELB
0.300 Biomarker phenotype GENOMICS_ENGLAND The effects of RelB deficiency on lymphocyte development and function. 26385063 2015
Entrez Id: 1380
Gene Symbol: CR2
CR2
0.300 Biomarker phenotype GENOMICS_ENGLAND CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities. 26325596 2015
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
0.100 Biomarker phenotype HPO
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
0.100 Biomarker phenotype HPO
Entrez Id: 9837
Gene Symbol: GINS1
GINS1
0.100 Biomarker phenotype HPO
Entrez Id: 727
Gene Symbol: C5
C5
0.100 Biomarker phenotype HPO
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
0.100 Biomarker phenotype HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker phenotype HPO
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
0.100 Biomarker phenotype HPO
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 712
Gene Symbol: C1QA
C1QA
0.100 Biomarker phenotype HPO
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
0.100 Biomarker phenotype HPO
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.100 Biomarker phenotype HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
0.100 Biomarker phenotype HPO
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
0.100 Biomarker phenotype HPO
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1
0.100 Biomarker phenotype HPO
Entrez Id: 3070
Gene Symbol: HELLS
HELLS
0.100 Biomarker phenotype HPO
Entrez Id: 1130
Gene Symbol: LYST
LYST
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.100 Biomarker phenotype HPO
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
0.100 Biomarker phenotype HPO