COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2005 2005
CUI: C0022408
Disease: Arthropathy
Arthropathy
group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2008 2008
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 97 10 0.010 None 1.000 1 2015 2015
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.010 None 1.000 1 2010 2010
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 970 22 0.010 None 1.000 1 2019 2019
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2019 2019
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 102 17 0.010 None 1.000 1 2015 2015
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.010 None 1.000 1 2006 2006
EAR, PATELLA, SHORT STATURE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2013 2013
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
disease Anatomical Abnormality 1 1 0.010 None 1.000 1 1 2008 2008
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
disease Neoplasms Neoplastic Process 392 16 0.010 None 1.000 1 2016 2016
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 2018 2018
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.010 None < 0.001 1 2009 2009
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2008 2008
CUI: C1510475
Disease: Diverticulosis
Diverticulosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 43 6 0.010 None 1.000 1 1 2018 2018
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma
disease Neoplasms Neoplastic Process 15 2 0.010 None 1.000 1 2015 2015
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.010 None 1.000 1 1993 1993
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.010 None 1.000 1 1990 1990
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2018 2018
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 2016 2016
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 7 391 0.010 None 1.000 1 1991 1991
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 72 0.010 None 1.000 1 2017 2017
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 2019 2019
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2019 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.010 None < 0.001 1 2019 2019