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.
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2008 2008
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 34 3 0.300 None 1.000 1 2008 2008
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.300 None 1.000 1 2008 2008
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 1 2008 2008
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 19 5 0.300 None 1.000 1 2008 2008
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2008 2008
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile
disease Nervous System Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2015 2015
Neurodegeneration with brain iron accumulation (NBIA)
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.010 None 1.000 1 2010 2010
CUI: C2945695
Disease: Limb ischemia
Limb ischemia
disease Disease or Syndrome 171 3 0.010 None 1.000 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 28 0.010 None 1.000 1 2010 2010
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2009 2009
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis
disease Disease or Syndrome 124 5 0.010 None 1.000 1 2017 2017
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
disease Neoplastic Process 59 9 0.010 None 1.000 1 2017 2017
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia
disease Nervous System Diseases Disease or Syndrome 15 9 0.010 None 1.000 1 1 2014 2014
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
disease Nervous System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2010 2010
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.300 None 1.000 1 2008 2008
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2011 2011
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2019 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2017 2017