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: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.010 None 1.000 1 1996 1996
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 1996 1996
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 50 67 0.010 None 1.000 1 1996 1996
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 1996 1996
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 1996 1996
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1996 1996
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 1996 1996
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.010 None 1.000 1 1996 1996
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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 1.000 10 1997 2019
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: 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: 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: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.010 None 1.000 1 1999 1999
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1999 1999
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: 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: C0406632
Disease: Autoimmune skin disease
Autoimmune skin disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000
CUI: C1336862
Disease: Parotid Gland Undifferentiated Carcinoma
Parotid Gland Undifferentiated Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2001 2001
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.020 None 1.000 2 2002 2018
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: C0036221
Disease: Mast-Cell Sarcoma
Mast-Cell Sarcoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 2003 2003
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.010 None 1.000 1 2003 2003
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.010 None 1.000 1 2003 2003