XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
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: C1332959
Disease: Childhood Cerebellar Neoplasm
Childhood Cerebellar Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C4539948
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 		disease Disease or Syndrome 1 1 0.500 moderate 1.000 1 1 2017 2017
CUI: C0345001
Disease: Unicuspid aortic valve
Unicuspid aortic valve 		disease Congenital Abnormality 2 0.010 None 1.000 1 2014 2014
CUI: C0814138
Disease: upper GI cancer
upper GI cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 1 0.010 None 1.000 1 1 2004 2004
CUI: C4707179
Disease: Acquired cystic disease associated renal cell carcinoma
Acquired cystic disease associated renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C0262972
Disease: Acute dermatitis
Acute dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2 2013 2013
CUI: C0263606
Disease: Early radiation dermatitis
Early radiation dermatitis 		disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4744723
Disease: Locally Advanced Cervical Carcinoma
Locally Advanced Cervical Carcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2009 2009
CUI: C0346202
Disease: Cervical Adenosquamous Carcinoma
Cervical Adenosquamous Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 4 1 0.010 None 1.000 1 1 2005 2005
CUI: C1333979
Disease: Hepatitis Virus-Related Hepatocellular Carcinoma
Hepatitis Virus-Related Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 2 0.010 None < 0.001 1 1 2013 2013
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		phenotype Finding 7 0.100 None 0
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 31 0.010 None 1.000 1 2015 2015
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: C0017416
Disease: Genital Neoplasms, Female
Genital Neoplasms, Female 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 12 4 0.010 None 1.000 1 2 2017 2017
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.010 None 1.000 1 2015 2015
CUI: C0856738
Disease: Triple vessel disease
Triple vessel disease 		disease Cardiovascular Diseases Disease or Syndrome 13 3 0.010 None 1.000 1 1 2013 2013
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0
CUI: C1377919
Disease: Stage IV Nasopharyngeal Carcinoma
Stage IV Nasopharyngeal Carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 16 1 0.010 None 1.000 1 1 2014 2014
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		disease Neoplasms Neoplastic Process 17 3 0.010 None 1.000 1 2018 2018
CUI: C0751870
Disease: Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 31 0.010 None 1.000 1 2 2009 2009
CUI: C0850639
Disease: premalignant lesion
premalignant lesion 		phenotype Neoplastic Process 20 5 0.010 None < 0.001 1 2 2005 2005
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 20 19 0.010 None 1.000 1 2004 2004
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		disease Digestive System Diseases Disease or Syndrome 21 23 0.010 None 1.000 1 2009 2009
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 27 0.010 None 1.000 1 2017 2017