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.
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 0.650 strong 1.000 6 2012 2018
Chromosome 17q21.31 Deletion Syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 9 0.640 0.750 10 9 1993 2018
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 0.400 2 2012 2012
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 2 2012 2012
CUI: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 2 2012 2012
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.300 2 2012 2012
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 111 19 0.300 2 2012 2012
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 2 2012 2012
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 11 0.300 2 2012 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.300 2 2012 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 2 2012 2012
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.300 2 2012 2012
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.300 2 2012 2012
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 2 2012 2012
Leukemia, Megakaryoblastic, of Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 9 1 0.300 1 2014 2014
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.300 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.110 1.000 5 8 2008 2015
CUI: C0241210
Disease: Speech Delay
Speech Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 212 0.110 1.000 1 2016 2016
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 386 4531 0.100 2 280 2012 2017
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 59 745 0.100 2 63 2012 2017
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 386 4531 0.100 2 280 2012 2017
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 201 472 0.100 1 1 2017 2017
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Digestive System Diseases Disease or Syndrome 154 560 0.100 1 35 2012 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.100 1 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 193 435 0.100 1 1 2017 2017