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: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype Nervous System Diseases Finding 64 2 0.100 None 0 1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.100 None 0
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.100 None 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.100 None 0
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 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: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
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: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 49 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 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: C0345832
Disease: Neoplasm of small intestine
Neoplasm of small intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.100 None 0
CUI: C0344312
Disease: White forelock
White forelock 		phenotype Skin and Connective Tissue Diseases Finding 12 1 0.100 None 0