COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Source: ALL
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: 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 5 13 1997 2013
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 2 10 2002 2013
CUI: C4510043
Disease: Severe generalized recessive dystrophic epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.020 None 1.000 2 1999 2014
CUI: C0474886
Disease: Localized recessive dystrophic epidermolysis bullosa
Localized recessive dystrophic epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 1998 1998
CUI: C0474887
Disease: Generalized dystrophic epidermolysis bullosa
Generalized dystrophic epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
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 1 13 2002 2002
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: C4015945
Disease: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1
CUI: C4511056
Disease: Centripetalis recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4518087
Disease: Acral dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa 		disease Disease or Syndrome 1 0.300 None 0
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 2 25 0.780 strong 1.000 27 25 1989 2017
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.400 None 0.957 23 3 1991 2017
CUI: C2931648
Disease: Larsen syndrome, dominant type
Larsen syndrome, dominant type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries Disease or Syndrome 2 0.010 None 1.000 1 1995 1995
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome 		disease Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 2 0.100 None 0
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 3 11 0.800 None 0.933 15 11 1999 2018
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 10 0.750 strong 1.000 7 10 1995 2018
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 3 1 0.600 None 1.000 3 1 1999 2009
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 3 4 0.600 None 1.000 3 4 1999 2009
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 8 0.010 None 1.000 1 2019 2019
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		disease Disease or Syndrome 4 13 0.100 None 0 2
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype Finding 4 3 0.100 None 0 2
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes 		phenotype Finding 4 0.100 None 0
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 1995 1995