Source: HPO

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: 10519
Gene Symbol: CIB1
CIB1
calcium and integrin binding 1 0.458 0.769 3.3E-04
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1 0.650 0.577 2.5E-06
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 79092
Gene Symbol: CARD14
CARD14
caspase recruitment domain family member 14 0.546 0.846 1.2E-19
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
ADAM metallopeptidase domain 17 0.453 0.808 1.00
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
Janus kinase 3 0.505 0.731 5.9E-06
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 3574
Gene Symbol: IL7
IL7
interleukin 7 0.464 0.808 0.93
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 340061
Gene Symbol: STING1
STING1
stimulator of interferon response cGAMP interactor 1 0.522 0.769 1.2E-03
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN
interleukin 36 receptor antagonist 0.638 0.538 3.4E-08
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 23765
Gene Symbol: IL17RA
IL17RA
interleukin 17 receptor A 0.529 0.808 3.6E-04
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
extracellular matrix protein 1 0.576 0.731 4.7E-14
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
cathepsin B 0.457 0.846 5.9E-11
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 147138
Gene Symbol: TMC8
TMC8
transmembrane channel like 8 0.705 0.231 1.1E-14
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
transmembrane channel like 6 0.705 0.308 5.9E-10
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
cathepsin C 0.541 0.731 1.1E-07
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2
lipin 2 0.628 0.615 5.0E-05
CUI: C0241157
Disease: pustule
pustule
phenotype 0.100 None 0 0