XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 369; N. variants: 35
Source: BEFREE ×
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: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.090 None 0.778 9 1 2011 2018
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 385 111 0.060 None 0.833 6 1 2007 2017
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2016 2016
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18 0.010 None 1.000 1 2 2011 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47 0.100 None 1.000 16 3 2004 2017
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 132 23 0.080 None 1.000 8 1 1994 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 303 31 0.010 None 1.000 1 2015 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 358 27 0.010 None 1.000 1 2017 2017
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 557 20 0.010 None 1.000 1 2014 2014
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 23 0.010 None 1.000 1 2015 2015
CUI: C0345001
Disease: Unicuspid aortic valve
Unicuspid aortic valve 		disease Congenital Abnormality 2 0.010 None 1.000 1 2014 2014
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Congenital Abnormality 10 2 0.010 None 1.000 1 2017 2017
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2015 2015
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 94 0.100 None 0.957 47 5 2002 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1504 1022 0.080 None 0.875 8 2 2007 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2395 676 0.060 None 0.667 6 3 2006 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.050 None 1.000 5 3 2007 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1262 440 0.050 None 1.000 5 1 2007 2017
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 455 137 0.050 None 0.800 5 1 2010 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.050 None 1.000 5 3 2008 2018
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 379 207 0.050 None 0.800 5 2 2007 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1432 769 0.040 None 1.000 4 1 2007 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.040 None 0.750 4 1 2009 2016
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1031 207 0.040 None 0.750 4 3 2007 2015
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1382 269 0.040 None 0.750 4 1 2003 2013