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: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia
disease Congenital Abnormality 6 2 0.010 None 1.000 1 1999 1999
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 91 743 0.010 None 1.000 1 2019 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2004 2004
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2017 2017
CUI: C0019340
Disease: Herpes NOS
Herpes NOS
disease Infections Disease or Syndrome 114 5 0.010 None 1.000 1 2018 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2019 2019
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease
disease Skin and Connective Tissue Diseases Disease or Syndrome 61 4 0.010 None 1.000 1 2012 2012
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
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
Parotid Gland Undifferentiated Carcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
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: C0023646
Disease: Lichen Planus
Lichen Planus
disease Skin and Connective Tissue Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2016 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2017 2017
CUI: C0030807
Disease: Pemphigus
Pemphigus
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 2017 2017
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2010 2016
Congenital leukocyte adherence deficiency
disease Disease or Syndrome 14 12 0.020 None 1.000 2 2000 2015
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: 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: 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: 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: 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: 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