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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 474 7 0.600 0.986 74 1993 2017
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1 0.600 2 1 2002 2008
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 2008 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.320 1.000 3 2004 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 512 210 0.310 1.000 1 2010 2010
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.310 2 2006 2015
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Pathologic Function 182 0.300 1 2015 2015
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.300 0
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 516 378 0.300 1.000 1 2010 2010
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.200 1 2009 2009
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 31 5 0.200 1 2009 2009
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 109 201 0.100 1 2 2017 2017
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 200 419 0.100 1 2 2017 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 223 429 0.100 1 2 2017 2017
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 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
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 176 357 0.100 1 2 2017 2017
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 80 150 0.100 1 2 2017 2017
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 182 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
Malignant Central Nervous System Neoplasm
disease Neoplastic Process 44 87 0.100 2 1 2016 2017
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 68 0.100 0
CUI: C0345397
Disease: Accessory rib
Accessory rib
disease Congenital Abnormality 11 0.100 0