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: C0748903
Disease: spinal cord involvement
spinal cord involvement 		disease Disease or Syndrome 9 0.100 None 0.900 10 2010 2019
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2016 2016
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		disease Disease or Syndrome 2 10 0.010 None 1.000 1 2013 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.100 None 0 2
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0 2
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype Finding 87 1 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype Finding 29 4 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0 2
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 0.100 None 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		phenotype Finding 10 0.100 None 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		disease Disease or Syndrome 21 2 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0 2
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype Finding 31 3 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1969722
Disease: Impaired pursuit initiation and maintenance
Impaired pursuit initiation and maintenance 		phenotype Finding 2 0.100 None 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		phenotype Finding 4 2 0.100 None 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		phenotype Finding 7 1 0.100 None 0
CUI: C4023376
Disease: Abnormality of the dorsal column of the spinal cord
Abnormality of the dorsal column of the spinal cord 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		phenotype Sign or Symptom 13 0.100 None 0