LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
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: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.020 None 1.000 2 1998 2002
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma
disease Neoplasms Neoplastic Process 66 7 0.010 None 1.000 1 2005 2005
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb
phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.020 None 1.000 2 1981 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2020 2020
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
phenotype Finding 13 0.100 None 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2014 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2017 2017
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
phenotype Pathologic Function 70 0.100 None 0
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 59 13 0.010 None 1.000 1 2020 2020
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.020 None 1.000 2 2009 2016
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2019 2019
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 60 0.100 None 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies
phenotype Finding 12 0.100 None 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 2014 2014
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0