WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 0.500 2 2008 2016
CUI: C0023980
Disease: Longevity
Longevity 		phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2015 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2015 2015
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None < 0.001 1 2015 2015
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 0.010 None 1.000 1 2009 2009
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0 1
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype Finding 14 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		phenotype Finding 5 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4023817
Disease: Aplasia/Hypoplasia of the testes
Aplasia/Hypoplasia of the testes 		phenotype Finding 1 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 0.100 None 0