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: C3809469
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 		disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2013 2013
CUI: C3715156
Disease: AMYOTROPHIC LATERAL SCLEROSIS 20
AMYOTROPHIC LATERAL SCLEROSIS 20 		disease Disease or Syndrome 2 2 0.600 None 1.000 2 2 2013 2016
CUI: C1336891
Disease: Urinary Bladder Inflammatory Myofibroblastic Tumor
Urinary Bladder Inflammatory Myofibroblastic Tumor 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4023052
Disease: Ubiquitin-positive cerebral inclusion bodies
Ubiquitin-positive cerebral inclusion bodies 		phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 4 1 0.100 None 0
CUI: C4022159
Disease: Muscle fiber inclusion bodies
Muscle fiber inclusion bodies 		phenotype Finding 5 1 0.100 None 0
CUI: C3542501
Disease: Acute Infective Polyneuritis
Acute Infective Polyneuritis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		phenotype Anatomical Abnormality 8 1 0.100 None 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 0.100 None 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype Pathologic Function 16 1 0.100 None 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		phenotype Finding 17 4 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C0277527
Disease: Epidemic diarrhea
Epidemic diarrhea 		disease Digestive System Diseases; Infections Disease or Syndrome 19 0.010 None 1.000 1 2018 2018
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 0.100 None 0
CUI: C4551516
Disease: Hip pain
Hip pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 21 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0
CUI: C0019559
Disease: Hip joint pain
Hip joint pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 24 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2003 2003
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 34 6 0.500 None 1.000 1 2013 2013
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0