Source: GENOMICS_ENGLAND

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: 79719
Gene Symbol: AAGAB
AAGAB
alpha and gamma adaptin binding protein 0.695 0.538 3.9E-07
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.620 strong 1.000 0 0 2012 2013
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
secreted LY6/PLAUR domain containing 1 0.560 0.654 0.26
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.580 strong 1.000 2 0 2003 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.575 0.654 0.74
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.500 None 1.000 1 0 1995 2019
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
keratin 9 0.678 0.346 1.1E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.470 strong 1.000 0 0 1994 2019
Entrez Id: 1828
Gene Symbol: DSG1
DSG1
desmoglein 1 0.606 0.538 0.93
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.470 strong 0.857 0 0 2005 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.450 strong 1.000 2 0 2005 2016
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
keratin 10 0.579 0.692 2.5E-03
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.450 None 1.000 2 0 1994 2019
Entrez Id: 8710
Gene Symbol: SERPINB7
SERPINB7
serpin family B member 7 0.760 0.346 7.4E-09
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.450 strong 1.000 0 0 2014 2019
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
cathepsin C 0.541 0.731 1.1E-07
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.440 strong 1.000 1 0 1999 2012
Entrez Id: 284654
Gene Symbol: RSPO1
RSPO1
R-spondin 1 0.593 0.731 1.4E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.420 strong 1.000 0 0 2017 2018
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
keratin 6C 0.751 0.269 3.8E-22
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.410 strong 1.000 0 0 2011 2011
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.656 0.423 1.00
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.400 moderate 1.000 2 0 2014 2014
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
keratin 14 0.530 0.731 2.0E-04
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 362
Gene Symbol: AQP5
AQP5
aquaporin 5 0.552 0.769 5.3E-02
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.310 strong 1.000 0 0 2016 2016
Entrez Id: 644815
Gene Symbol: FAM83G
FAM83G
family with sequence similarity 83 member G 1.000 0.077 3.3E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.300 limited 1.000 1 0 2018 2018