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: C0242036
Disease: Paraplegia, Ataxic
Paraplegia, Ataxic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0278114
Disease: Paraplegia, Cerebral
Paraplegia, Cerebral 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0278115
Disease: Paraplegia, Spinal
Paraplegia, Spinal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C0452143
Disease: Paraplegia, Flaccid
Paraplegia, Flaccid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2001 2001
CUI: C1968845
Disease: Primary Lateral Sclerosis, Adult, 1
Primary Lateral Sclerosis, Adult, 1 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
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: C0742191
Disease: Cervical spinal cord atrophy
Cervical spinal cord atrophy 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 3 2 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: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 11 0.020 None 1.000 2 2012 2018
CUI: C0017563
Disease: Gingival Diseases
Gingival Diseases 		group Stomatognathic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 2 0.550 None 1.000 7 2 2004 2017
CUI: C4024929
Disease: Slowed slurred speech
Slowed slurred speech 		phenotype Finding 5 0.100 None 0
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 6 38 0.930 None 1.000 32 36 1998 2018
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 11 0.010 None 1.000 1 2009 2009
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs 		phenotype Sign or Symptom 7 0.100 None 0
CUI: C1504525
Disease: Acute lymphoblastic leukemia recurrent
Acute lymphoblastic leukemia recurrent 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C4552224
Disease: B-cell aplasia
B-cell aplasia 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0 1
CUI: C0345288
Disease: Liver hyperplasia
Liver hyperplasia 		disease Congenital Abnormality 10 0.010 None 1.000 1 2013 2013
CUI: C4288302
Disease: Refractory Adult Acute Lymphoblastic Leukemia
Refractory Adult Acute Lymphoblastic Leukemia 		disease Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 2
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 44 0.020 None 1.000 2 1997 1997