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: 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: C0019343
Disease: Pemphigoid Gestationis
Pemphigoid Gestationis
phenotype Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.100 None 1.000 10 1990 2018
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
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.050 None 1.000 5 1996 2019
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: 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: 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: 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: 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: 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
Congenital leukocyte adherence deficiency
disease Disease or Syndrome 14 12 0.020 None 1.000 2 2000 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 1.000 2 2016 2019
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: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2017 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 1 2017 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: 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: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2016 2017
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2010 2016
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: 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