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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 5 2010 2019
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2015 2015
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: C1851057
Disease: Normal motor development
Normal motor development 		phenotype Finding 1 1 0.100 None 1.000 1 1 2014 2014
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 1.000 1 1 2014 2014
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: C3827253
Disease: Classical Glioblastoma
Classical Glioblastoma 		disease Neoplastic Process 6 2 0.010 None 1.000 1 2017 2017
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: 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: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 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: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0