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.
Deep cerebral white matter hyperdensities
phenotype Finding 1 0.100 None 0
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
disease Eye Diseases Disease or Syndrome 2 20 0.100 None 1.000 6 4 2005 2015
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
Functional abnormality of the bladder
phenotype Finding 3 0.100 None 0
CUI: C0423414
Disease: Retinal flecking
Retinal flecking
phenotype Finding 5 1 0.100 None 0
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2012 2012
Spastic paraplegia 11, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2019 2019
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness
phenotype Sign or Symptom 13 0.100 None 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
Complicated hereditary spastic paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2009 2009
Autosomal Recessive Hereditary Spastic Paraplegia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.020 None 1.000 2 2009 2019
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 0
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2014 2014
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2014 2014
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5
phenotype Finding 34 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration
disease Mental or Behavioral Dysfunction 39 3 0.010 None 1.000 1 2007 2007
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 40 1 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2008 2008