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: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2 13 0.990 None 1.000 20 13 2001 2016
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 2012 2012
Severe combined immunodeficiency with sensitivity to ionizing radiation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 10 0.310 strong 1.000 2 2006 2018
CUI: C4016019
Disease: DNA Ligase I Deficiency
DNA Ligase I Deficiency
disease Disease or Syndrome 3 0.010 None 1.000 1 2020 2020
Structural Clinical Interview for DSM-III
phenotype Diagnostic Procedure 5 0.300 None 1.000 1 2016 2016
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2020 2020
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.310 None 1.000 2 2013 2014
CUI: C1837758
Disease: Bird-like facies
Bird-like facies
phenotype Finding 12 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
phenotype Finding 13 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose
disease Anatomical Abnormality 13 0.100 None 0
CUI: C0030489
Disease: Paraproteinemias
Paraproteinemias
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 9 0.100 None 0
Desquamation of skin soon after birth
phenotype Finding 14 0.100 None 0
Abnormality of female external genitalia
disease Anatomical Abnormality 15 0.100 None 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.010 None 1.000 1 2017 2017
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 20 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
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.100 None 1.000 2 2 2001 2014
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.300 None 0
CUI: C0206658
Disease: Smooth Muscle Tumor
Smooth Muscle Tumor
disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2002 2002
CUI: C0002453
Disease: Amenorrhea
Amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0