XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
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: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		disease Disease or Syndrome 1 9 0.600 strong 1.000 5 9 2014 2018
CUI: C1851057
Disease: Normal motor development
Normal motor development 		phenotype Finding 1 1 0.100 None 1.000 1 1 2014 2014
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 0.300 None 1.000 1 2016 2016
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		disease Disease or Syndrome 4 7 0.300 strong 1.000 1 2015 2015
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism 		disease Disease or Syndrome 5 0.100 None 0
CUI: C3827253
Disease: Classical Glioblastoma
Classical Glioblastoma 		disease Neoplastic Process 6 2 0.010 None 1.000 1 2017 2017
CUI: C1858732
Disease: Malar prominence
Malar prominence 		phenotype Finding 10 0.100 None 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		phenotype Finding 12 0.100 None 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 16 3 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		phenotype Finding 21 0.100 None 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 23 154 0.300 limited 1.000 1 2015 2015
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 24 179 0.300 limited 1.000 1 2015 2015
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		disease Neoplastic Process 24 11 0.010 None 1.000 1 2011 2011
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.430 strong 0.667 3 1 2014 2016
CUI: C0027086
Disease: Myoma
Myoma 		disease Neoplasms Neoplastic Process 28 4 0.010 None 1.000 1 2008 2008
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		disease Neoplastic Process 28 17 0.010 None 1.000 1 2011 2011
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 29 2 0.100 None 0
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 limited 1.000 1 2015 2015
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0