UCHL1, ubiquitin C-terminal hydrolase L1, 7345

N. diseases: 260; N. variants: 7
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: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 1 2011 2011
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.070 None 1.000 7 2008 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.070 None 1.000 7 2005 2017
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
phenotype Neoplasms Neoplastic Process 267 3 0.010 None 1.000 1 2014 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.030 None 1.000 3 2009 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2017 2017
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1 2011 2011
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.040 None 1.000 4 2008 2018
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.010 None 1.000 1 1992 1992
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2009 2009
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 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: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 687 123 0.010 None 1.000 1 2019 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.030 None 1.000 3 2017 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2006 2006
CUI: C4086158
Disease: Childhood Ganglioneuroblastoma
Childhood Ganglioneuroblastoma
disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2018 2018
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.030 None 1.000 3 2010 2016
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.040 None 1.000 4 2008 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2015 2015
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2018 2018
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Occupational Diseases; Wounds and Injuries Disease or Syndrome 26 0.010 None 1.000 1 1990 1990