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: C4554010
Disease: Isomerism (body)
Isomerism (body)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.010 None 1.000 1 2005 2005
CUI: C0344730
Disease: Atrial Septal Defect Sinus Venosus
Atrial Septal Defect Sinus Venosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.300 None 1.000 1 2005 2005
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 2006 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2007 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2007 2007
Malignant neoplasm of adrenal cortex
disease Neoplasms; Endocrine System Diseases Neoplastic Process 60 1 0.010 None 1.000 1 2007 2007
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2007 2007
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2007 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2007 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.360 None 1.000 7 2009 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 1.000 6 2009 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 1.000 6 2009 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.040 None 1.000 4 2009 2018
CUI: C0206639
Disease: Neoplasms, Bone Tissue
Neoplasms, Bone Tissue
group Neoplasms Neoplastic Process 7 0.200 None 1.000 1 2009 2009
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.010 None 1.000 1 2009 2009
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2009 2009
CUI: C0278493
Disease: Breast cancer recurrent
Breast cancer recurrent
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.010 None 1.000 1 2009 2009
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2009 2009
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases
group Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2009 2009
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.010 None 1.000 1 2009 2009
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None 1.000 1 2009 2009
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 49 0.300 None 1.000 1 2009 2009
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None 1.000 1 2009 2009
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.200 None 1.000 1 2009 2009
Secondary malignant neoplasm of bone
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.020 None 1.000 2 2010 2016