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: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.900 None 1.000 128 15 1992 2019
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.310 None 1.000 1 0 2009 2009
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.200 None 1.000 1 0 2002 2002
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 649
Gene Symbol: BMP1
BMP1
bone morphogenetic protein 1 0.554 0.769 8.9E-04
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 55914
Gene Symbol: ERBIN
ERBIN
erbb2 interacting protein 0.700 0.231 0.99
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 412
Gene Symbol: STS
STS
steroid sulfatase 0.431 0.846 0.81
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3558
Gene Symbol: IL2
IL2
interleukin 2 0.336 0.885 0.48
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3486
Gene Symbol: IGFBP3
IGFBP3
insulin like growth factor binding protein 3 0.439 0.808 0.91
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease 0.010 None 1.000 1 0 2015 2015