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: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 51 54 1.000 strong 0.983 121 54 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 15 15 0.900 None 1.000 128 15 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 3 11 0.800 None 0.933 15 11 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 2 25 0.780 strong 1.000 27 25 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 3 10 0.750 strong 1.000 7 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 5 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 3 4 0.600 None 1.000 3 4 1999 2009
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: 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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.500 None 1.000 1 1 2008 2008
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: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2008 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.300 None 1.000 1 2008 2008
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 1 2018 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2008 2008
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.300 None 1.000 1 2002 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2008 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2008 2008
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.300 None 1.000 1 2018 2018
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2008 2008
CUI: C4518087
Disease: Acral dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa 		disease Disease or Syndrome 1 0.300 None 0
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.150 None 1.000 5 1999 2014
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.120 None 1.000 2 2011 2014