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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.500 1 2008 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.310 1.000 1 2009 2009
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 3 2008 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.300 3 2008 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.300 3 2008 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2008 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.300 1 2008 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.300 1 2008 2008
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 7 0.300 0
CUI: C4310684
Disease: SOTOS SYNDROME 3
SOTOS SYNDROME 3
disease Disease or Syndrome 1 1 0.100 1 1 2015 2015
CUI: C4280654
Disease: Narrow skull shape
Narrow skull shape
disease Congenital Abnormality 90 0.100 0
CUI: C1867446
Disease: Bulging forehead
Bulging forehead
phenotype Finding 104 0.100 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 32 1 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital Abnormality 21 3 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 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: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
CUI: C1400105
Disease: Hypertrophy of nose
Hypertrophy of nose
phenotype Finding 42 0.100 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 107 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 79 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0