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.
Spastic paraplegia 15, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 6 0.840 0.750 9 6 2001 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 125 21 0.540 strong 1.000 5 2008 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 strong 1.000 5 2001 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.320 1.000 2 1 2011 2011
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 limited 2 2015 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.300 limited 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Congenital Abnormality 186 12 0.170 1.000 7 2009 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 114 40 0.150 0.800 7 6 1981 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.120 1.000 2 2008 2009
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 76 1 0.110 1.000 1 2008 2008
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.110 < 0.001 1 2014 2014
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 2 2 2014 2015
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
disease Eye Diseases Disease or Syndrome 2 18 0.100 2 3 2004 2004
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
disease Disease or Syndrome 22 56 0.100 1 1 2014 2014
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 93 85 0.100 1 1 2014 2014
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 27 79 0.100 1 1 2014 2014
Amyotrophic Lateral Sclerosis, Sporadic
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 135 92 0.100 1 1 2014 2014
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
phenotype Digestive System Diseases Disease or Syndrome 9 0.100 0
CUI: C0878773
Disease: Overactive Bladder
Overactive Bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 1 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C4020898
Disease: Overactive bladder syndrome
Overactive bladder syndrome
disease Disease or Syndrome 25 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity
phenotype Finding 22 0.100 0
CUI: C1836296
Disease: Lower limb muscle weakness
Lower limb muscle weakness
phenotype Finding 46 5 0.100 0