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: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8
disease Disease or Syndrome 1 5 0.600 7 5 2013 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 0.300 limited 2 2002 2013
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 107 11 0.300 strong 1 2014 2014
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 299 48 0.300 1 2006 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.300 1 2006 2006
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.300 1 2006 2006
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 0.300 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 221 8 0.170 1.000 7 2013 2015
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Disease or Syndrome 29 1 0.110 1.000 1 2014 2014
CUI: C4280808
Disease: Abnormally small eyeball
Abnormally small eyeball
phenotype Anatomical Abnormality 144 0.100 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.100 0 1
CUI: C4280625
Disease: Decreased size of eyeball
Decreased size of eyeball
phenotype Finding 144 0.100 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 54 4 0.050 1.000 5 2013 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.040 1.000 4 2011 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.040 1.000 4 2011 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.030 1.000 3 2007 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.030 1.000 3 2007 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.030 1.000 3 2011 2016
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
disease Neoplastic Process 259 3 0.020 1.000 2 2015 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 32 25 0.020 1.000 2 2013 2016
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 631 37 0.020 1.000 2 2016 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.020 1.000 2 2015 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.020 1.000 2 2014 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.020 1.000 2 2013 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplastic Process 2267 400 0.010 1.000 1 2014 2014