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.
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2014 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.450 strong 1.000 6 2007 2019
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2019 2019
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy
phenotype Finding 9 0.100 None 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy
phenotype Finding 15 4 0.100 None 0
Decreased movement range in interphalangeal joints
phenotype Finding 1 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
phenotype Finding 39 4 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C4024731
Disease: Flexion limitation of toes
Flexion limitation of toes
phenotype Finding 1 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.090 None 0.778 9 2003 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.090 None 0.889 9 2001 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.080 None 0.875 8 2001 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.060 None 0.833 6 2001 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.060 None 0.833 6 2001 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.060 None 0.833 6 2001 2013
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 2017 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.030 None 1.000 3 2017 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.030 None 1.000 3 1996 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.030 None 1.000 3 2015 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2007 2017