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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease 1.000 strong 0.983 9 40 1993 2020
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 28 9 1992 2019
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		disease 0.800 None 0.933 0 9 1999 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		disease 0.780 strong 1.000 1 18 1989 2017
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		disease 0.750 strong 1.000 0 10 1995 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		disease 0.730 strong 1.000 0 13 1997 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease 0.600 None 1.000 0 4 1999 2009
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		disease 0.600 strong 1.000 0 10 2002 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		disease 0.600 None 1.000 0 1 1999 2009
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		disease 0.600 None 1.000 0 13 2002 2002
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease 0.120 None 1.000 0 4 2001 2004
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 4 1 1986 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype 0.100 None 0 6
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1853063
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE 		disease 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		phenotype 0.100 None 0 3
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		disease 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		phenotype 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C4015945
Disease: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE 		disease 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland 		phenotype 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0008767
Disease: Cicatrization
Cicatrization 		phenotype 0.100 None 0 2
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype 0.100 None 0 2