COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
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: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 1993 1993
CUI: C3887875
Disease: Visual field defects
Visual field defects
group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0338586
Disease: Vertebral Artery Dissection
Vertebral Artery Dissection
disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 3 0.300 strong 1.000 1 1995 1995
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.200 None 1.000 1 2016 2016
CUI: C0679401
Disease: Vascular rupture
Vascular rupture
disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 0
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture
phenotype Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries Pathologic Function 4 0.100 None 0
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.100 None 0
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2007 2007
CUI: C0007871
Disease: Uterine Cervical Incompetence
Uterine Cervical Incompetence
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 1 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.010 None 1.000 1 2007 2007
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.300 None 1.000 1 2007 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2015 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None < 0.001 1 1991 1991
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.100 None 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin
phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.210 None 1.000 3 1987 2015
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.110 None 1.000 1 2011 2011