Source: ALL
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 6941 3417 0.520 None 1.000 3 1 2008 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.410 strong 1.000 2 2012 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2012 2012
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 strong 1.000 1 2012 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.330 None 1.000 6 2008 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.320 None 1.000 3 2008 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.310 None 1.000 1 2008 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 3 2008 2011
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease Finding 24 5 0.300 None 1.000 1 2012 2012
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.300 None 1.000 1 2012 2012
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.300 None 1.000 1 2012 2012
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.300 None 1.000 1 2012 2012
Morphological abnormality of the central nervous system
group Anatomical Abnormality 10 7 0.300 strong 1.000 1 2012 2012
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2008 2008
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.300 None 1.000 1 2012 2012
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2008 2008
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2008 2008
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 25 0.300 None 1.000 1 2015 2015
Abnormality of nervous system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 13 0.300 None 1.000 1 2012 2012
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.100 None 0.944 18 1998 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 2001 2019
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C0266298
Disease: Accessory kidney
Accessory kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0