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: C4023817
Disease: Aplasia/Hypoplasia of the testes
Aplasia/Hypoplasia of the testes 		phenotype Finding 1 0.100 None 0
CUI: C0268134
Disease: DNA Repair-Deficiency
DNA Repair-Deficiency 		phenotype Nutritional and Metabolic Diseases Pathologic Function 2 0.300 None 1.000 1 2018 2018
CUI: C1563696
Disease: DNA Repair-Deficiency Disorders
DNA Repair-Deficiency Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2018 2018
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: C0263625
Disease: Subcutaneous calcification
Subcutaneous calcification 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 0.100 None 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		phenotype Finding 5 0.100 None 0
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2018 2018
CUI: C0038019
Disease: Spondylosis
Spondylosis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2001 2001
CUI: C0025319
Disease: Menopausal syndrome
Menopausal syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2010 2010
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 8 1 0.010 None 1.000 1 2017 2017
CUI: C0345832
Disease: Neoplasm of small intestine
Neoplasm of small intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.100 None 0
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0263491
Disease: Pili Torti
Pili Torti 		phenotype Skin and Connective Tissue Diseases Finding 12 0.100 None 0
CUI: C0344312
Disease: White forelock
White forelock 		phenotype Skin and Connective Tissue Diseases Finding 12 1 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype Finding 14 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: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 17 8 0.010 None 1.000 1 2012 2012
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 7 0.010 None 1.000 1 2017 2017
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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 25 0.010 None 1.000 1 2012 2012
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2006 2006
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.100 None 0