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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.050 None 1.000 5 1996 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2010 2016
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: 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: 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2004 2004
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		group Infections Disease or Syndrome 462 26 0.010 None 1.000 1 2018 2018
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.010 None 1.000 1 2007 2007
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: 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: 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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2010 2010
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.100 None 0 1
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: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.010 None 1.000 1 2015 2015
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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2017 2017
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0 1
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0