Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 55253
Gene Symbol: TYW1
TYW1
tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 3
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
glutamine rich 1 0.716 0.423 1.00
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 3712
Gene Symbol: IVD
IVD
isovaleryl-CoA dehydrogenase 0.705 0.462 1.5E-14
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 331
Gene Symbol: XIAP
XIAP
X-linked inhibitor of apoptosis 0.447 0.808 0.92
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 3
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype 0.100 None 0 1