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: C0854193
Disease: Cognitive deterioration
Cognitive deterioration
disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2007 2007
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2014 2014
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.110 None 1.000 1 2008 2008
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2014 2014
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 1 2004 2004
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C0423414
Disease: Retinal flecking
Retinal flecking
phenotype Finding 5 1 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 0
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
Functional abnormality of the bladder
phenotype Finding 3 0.100 None 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness
phenotype Sign or Symptom 13 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
Deep cerebral white matter hyperdensities
phenotype Finding 1 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5
phenotype Finding 34 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 0 3
Spastic paraplegia 15, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 46 0.950 None 1.000 17 46 2007 2016
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.030 None 1.000 3 2009 2019
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.390 None 1.000 11 1 2007 2019