COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
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: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 127 11 0.100 None 0.978 93 1990 2020
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 9 0.500 strong 0.976 41 4 1995 2018
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 35 0.700 strong 1.000 16 13 1996 2014
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.100 None 0.923 13 1997 2016
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.060 None 1.000 6 2000 2014
CUI: C0406650
Disease: Linear IgA Bullous Dermatosis
Linear IgA Bullous Dermatosis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 4 0.060 None 1.000 6 1997 2017
CUI: C1852551
Disease: Epithelial Recurrent Erosion Dystrophy
Epithelial Recurrent Erosion Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 2 0.750 strong 1.000 6 2 2003 2019
CUI: C0432326
Disease: Junctional epidermolysis bullosa mitis
Junctional epidermolysis bullosa mitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.050 None 1.000 5 1997 2001
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.330 strong 1.000 4 1 1996 2016
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 33 0.040 None 1.000 4 1991 2004
CUI: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
Pemphigoid, Benign Mucous Membrane 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 1 0.030 None 1.000 3 1996 2006
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.030 None 0.667 3 2012 2020
CUI: C0406369
Disease: Lichen planus pemphigoides
Lichen planus pemphigoides 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.030 None 1.000 3 1999 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2017 2019
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.020 None 1.000 2 1 2016 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2017 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2016 2017
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.020 None 1.000 2 2016 2016
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.020 None 1.000 2 2000 2015
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.020 None 0.500 2 2017 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.020 None 1.000 2 2006 2008
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.020 None 1.000 2 2018 2018
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2006 2006
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.010 None 1.000 1 1996 1996