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: C1836765
Disease: LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
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: C1836772
Disease: Decreased movement range in interphalangeal joints
Decreased movement range in interphalangeal joints 		phenotype Finding 1 0.100 None 0
CUI: C4024731
Disease: Flexion limitation of toes
Flexion limitation of toes 		phenotype Finding 1 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
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: C1516061
Disease: Astler-Coller B1 Rectal Carcinoma
Astler-Coller B1 Rectal Carcinoma 		disease Neoplastic Process 22 1 0.010 None 1.000 1 2005 2005
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 61 4 0.010 None 1.000 1 1996 1996
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: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.010 None 1.000 1 2001 2001
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.010 None 1.000 1 2017 2017
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2019 2019
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		group Infections Disease or Syndrome 237 12 0.010 None 1.000 1 2014 2014
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		disease Infections; Nervous System Diseases Disease or Syndrome 272 34 0.010 None 1.000 1 2019 2019
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2018 2018
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.010 None 1.000 1 2019 2019
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2019 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 1999 1999
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44 0.010 None 1.000 1 2019 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 2019 2019