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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 2001 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1 2001 2006
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.020 None 1.000 2 2014 2015
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 1.000 2 1 2001 2014
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		phenotype Diagnostic Procedure 5 0.300 None 1.000 1 2016 2016
CUI: C1332225
Disease: Aggressive Non-Hodgkin Lymphoma
Aggressive Non-Hodgkin Lymphoma 		disease Neoplastic Process 57 1 0.010 None 1.000 1 2014 2014
CUI: C4016019
Disease: DNA Ligase I Deficiency
DNA Ligase I Deficiency 		disease Disease or Syndrome 3 0.010 None 1.000 1 2020 2020
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2014 2014
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0