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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		disease Anatomical Abnormality 15 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: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 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: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 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