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: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		phenotype Finding 5 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 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: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C0346037
Disease: Acral Lentiginous Malignant Melanoma
Acral Lentiginous Malignant Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 16 2 0.100 None 0
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None < 0.001 1 2015 2015
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2010 2010
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.010 None 1.000 1 1 2013 2013
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None < 0.001 1 2015 2015
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2018 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None < 0.001 1 2015 2015
CUI: C1306068
Disease: After-cataract
After-cataract 		disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2 2013 2013
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 1 2013 2013
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2014 2014
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.030 None 1.000 3 6 2013 2018
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		phenotype Finding 29 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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 1 2000 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.120 None 1.000 2 1 2000 2009
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.020 None 1.000 2 2003 2009
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 4 2013 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.100 None 1.000 14 1 1996 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.020 None 1.000 2 1 2006 2007