TNXB, tenascin XB, 7148

N. diseases: 127; N. variants: 79
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.
Ehlers-Danlos syndrome caused by tenascin-X deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 3 0.610 None 1.000 5 3 1997 2017
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8
disease Disease or Syndrome 1 3 0.600 limited 1.000 1 3 2013 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.430 None 0.667 5 5 2004 2019
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.410 None 1.000 1 2013 2013
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 47 10 0.310 None 1.000 1 2013 2013
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.300 None 1.000 1 2018 2018
CUI: C4706552
Disease: Familial vesicoureteral reflux
Familial vesicoureteral reflux
disease Congenital Abnormality 6 0.300 None 1.000 1 2013 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.130 None 1.000 9 8 2008 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.130 None 0.667 3 2 2012 2019
Ehlers-Danlos syndrome, type 3 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.130 None 1.000 3 2 2013 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.110 None 1.000 4 23 2001 2011
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.110 None 1.000 2 8 2007 2017
CUI: C0345002
Disease: Quadricuspid aortic valve
Quadricuspid aortic valve
disease Congenital Abnormality 1 0.110 None 1.000 1 2009 2009
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.110 None 1.000 1 2013 2013
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.110 None 1.000 1 2013 2013
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.100 None 0.964 28 1997 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 2 11 2009 2010
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 2 11 2009 2010
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 5 2018 2018
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.100 None 1.000 2 5 2013 2015
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2018 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 1.000 2 3 2007 2010
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2015 2017
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 2 11 2009 2010
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure)
phenotype Laboratory Procedure 12 15 0.100 None 1.000 2 2 2012 2017