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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
disease Mental or Behavioral Dysfunction 1 0.500 2 2015 2015
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 0.400 strong 1 2015 2015
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.300 1 2005 2005
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 63 0.100 0
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 369 1022 0.100 2 2 2013 2016
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 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: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 117 244 0.100 1 1 2016 2016
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 369 1022 0.100 2 2 2013 2016
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
phenotype Finding 16 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.100 0
Simple syndactyly of toes, first web space
disease Congenital Abnormality 36 2 0.100 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital Abnormality 63 1 0.100 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 116 256 0.100 1 1 2016 2016
CUI: C4072834
Disease: Rough hair texture
Rough hair texture
phenotype Finding 44 0.100 0
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 3 7 2012 2017
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 65 2 0.100 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathologic Function 45 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Disease or Syndrome 51 0.100 0
CUI: C3550658
Disease: Maternal oligohydramnios
Maternal oligohydramnios
phenotype Finding 57 0.100 0