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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None 1.000 1 2018 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2017 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2019 2019
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: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.010 None 1.000 1 2019 2019
CUI: C0270814
Disease: Spastic syndrome
Spastic syndrome 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1992 1992
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.010 None 1.000 1 1999 1999
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.010 None 1.000 1 2015 2015
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2004 2004
CUI: C0265191
Disease: Chronic acquired lymphedema
Chronic acquired lymphedema 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2019 2019
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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2017 2017
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2017 2017
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2011 2011
CUI: C3494652
Disease: Severe dementia
Severe dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 19 3 0.010 None 1.000 1 2017 2017
CUI: C1112570
Disease: Paraneoplastic pemphigus
Paraneoplastic pemphigus 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C1304224
Disease: Pemphigoid nodularis
Pemphigoid nodularis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2010 2010
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 1996 1996
CUI: C0745138
Disease: Hypertensive urgency
Hypertensive urgency 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
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: C0578870
Disease: Chronic idiopathic urticaria
Chronic idiopathic urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 89 9 0.010 None 1.000 1 2018 2018