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: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.400 moderate 1.000 1 0 2006 2006
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.310 limited 1.000 1 0 2000 2011
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5 		PR/SET domain 5 0.621 0.654 3.6E-10
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.310 strong 1.000 1 0 2013 2015
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.310 None 1.000 1 0 2002 2011
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		folliculin 0.537 0.885 0.79
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 limited 1.000 1 0 2005 2005
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		zinc finger protein 469 0.584 0.769 0.72
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 limited 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 None 0 0