COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 38; N. variants: 68
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 40 1.000 strong 0.983 9 40 1993 2020
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 9 0.900 None 1.000 28 9 1992 2019
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 9 0.800 None 0.933 0 9 1999 2018
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 18 0.780 strong 1.000 1 18 1989 2017
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 10 0.750 strong 1.000 0 10 1995 2018
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 13 0.730 strong 1.000 0 13 1997 2013
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 4 0.600 None 1.000 0 4 1999 2009
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 10 0.600 strong 1.000 0 10 2002 2013
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.600 None 1.000 0 1 1999 2009
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 13 0.600 None 1.000 0 13 2002 2002
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 4 7 0.120 None 1.000 0 4 2001 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 4 1 1986 2015
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 0 2
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 4 10 0.100 None 0 6
CUI: C1853063
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		phenotype Finding 1 3 0.100 None 0 3
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		disease Disease or Syndrome 4 12 0.100 None 0 2
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		phenotype Finding 2 3 0.100 None 0 2
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4015945
Disease: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 3 4 0.100 None 0 2
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype Finding 2 3 0.100 None 0 2
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland 		phenotype Finding 2 2 0.100 None 0 1
CUI: C0008767
Disease: Cicatrization
Cicatrization 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 3 0.100 None 0 2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 2