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: 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2020 2020
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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.050 None 1.000 5 1996 2019
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: 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: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.010 None 1.000 1 2019 2019
CUI: C0406653
Disease: Eosinophilic spongiosis
Eosinophilic spongiosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
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: 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: 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: C0039128
Disease: Syphilis
Syphilis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 80 3 0.010 None 1.000 1 2019 2019
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2019 2019
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: C0745138
Disease: Hypertensive urgency
Hypertensive urgency 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
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: 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: 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: 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