Source: CLINVAR ×
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: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 35 0.930 None 1.000 25 35 1998 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 81 0.430 None 1.000 0 1 1998 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 26 0.400 None 1.000 17 6 1998 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 44 58 0.160 None 1.000 1 6 2009 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 14 17 0.150 None 1.000 1 2 2009 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 27 70 0.120 None 1.000 1 2 1999 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 28 39 0.120 None 1.000 1 9 2012 2019
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 11 23 0.120 None 1.000 0 2 2007 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 13 3 2012 2017
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 42 0.100 None 1.000 1 9 2016 2016
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 62 83 0.100 None 1.000 1 8 2016 2016
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 2
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 14 17 0.100 None 0 1
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 3 0.100 None 0 1
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 2 2 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 6 0.100 None 0 1
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		phenotype Finding 3 4 0.100 None 0 1
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype Finding 2 3 0.100 None 0 1
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 		disease Disease or Syndrome 3 3 0.100 None 0 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 17 19 0.100 None 0 1
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 8 10 0.100 None 0 2
CUI: C4024175
Disease: Cerebellar ataxia associated with quadrupedal gait
Cerebellar ataxia associated with quadrupedal gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 1 0.100 None 0 1
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 17 0.100 None 0 3