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.
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 81 0.800 44 81 1995 2016
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
disease Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 80 0.500 43 80 1995 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3
disease Disease or Syndrome 1 8 0.100 41 8 1995 2017
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 13 1995 2018
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 13 1995 2018
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
phenotype Finding 1 2 0.100 5 2 1995 2004
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 0.300 limited 2 2016 2016
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 3 12 0.100 2 1 1993 2006
CUI: C0751294
Disease: Memory Disorder, Spatial
Memory Disorder, Spatial
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 41 0.300 2 2015 2018
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
phenotype Finding 1 2 0.100 2 2 2003 2009
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 41 0.300 2 2015 2018
CUI: C0025261
Disease: Memory Disorders
Memory Disorders
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 43 0.300 2 2015 2018
CUI: C0751293
Disease: Memory Disorder, Semantic
Memory Disorder, Semantic
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 41 0.300 2 2015 2018
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder
phenotype Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 29 0.300 1 2015 2015
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u
disease Cardiovascular Diseases Disease or Syndrome 1 1 0.500 1 1 2007 2007
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 190 4 0.110 1 2006 2006
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 12 0.300 1 1 2001 2001
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.300 1 2016 2016
CUI: C0023186
Disease: Learning Disorders
Learning Disorders
group Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 35 1 0.300 1 2015 2015
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord
disease Nervous System Diseases Disease or Syndrome 39 0.300 1 2014 2014
CUI: C1838313
Disease: Pick Complex
Pick Complex
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 12 0.300 1 1 2001 2001
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 144 5 0.300 1 2009 2009
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders
group Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 29 0.300 1 2015 2015
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 71 2 0.300 1 2015 2015
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
phenotype Finding 1 1 0.100 1 1 2014 2014