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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0.909 11 4 1998 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.100 None 0.818 11 2008 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.909 11 4 1998 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 2001 2016
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: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 1.000 2 2 2001 2014
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 1.000 2 2 2001 2014
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: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 55 3 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.100 None 0 1
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
phenotype Finding 13 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0 1
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0