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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 87 3 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		phenotype Finding 7 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
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: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.300 None 1.000 1 2014 2014
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2012 2012
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.300 None 1.000 1 2016 2016
CUI: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2012 2012
CUI: C0028797
Disease: Occupational Diseases
Occupational Diseases 		group Occupational Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2004 2004
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2014 2014
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2005 2005