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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2012 2018
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.020 None 1.000 2 2014 2017
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: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2011 2011
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
disease Disease or Syndrome 2 1 0.400 None 1.000 1 1 2013 2013
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy
phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction
phenotype Pathologic Function 16 1 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
phenotype Finding 27 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Fatty replacement of skeletal muscle
phenotype Finding 17 4 0.100 None 0
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.100 None 0
Ubiquitin-positive cerebral inclusion bodies
phenotype Laboratory or Test Result 3 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs
phenotype Finding 18 0.100 None 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology
phenotype Anatomical Abnormality 8 1 0.100 None 0