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: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A
disease Eye Diseases Disease or Syndrome; Congenital Abnormality 3 34 0.700 None 1.000 31 33 1997 2016
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 25 0.500 strong 0.979 97 14 1995 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.500 None 1.000 29 6 1995 2019
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.500 None 1.000 2 2008 2010
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood
disease Eye Diseases Disease or Syndrome 30 15 0.450 None 1.000 35 12 1997 2017
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.450 None 1.000 7 3 2001 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.875 72 8 1995 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 0.875 72 8 1995 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.400 None 0.931 29 10 2002 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.400 None 0.964 28 6 1977 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.400 None 1.000 16 1995 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0.875 16 6 2005 2018
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5
disease Disease or Syndrome 7 32 0.400 None 1.000 3 3 1997 2002
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B
disease Eye Diseases Disease or Syndrome 4 2 0.400 None 0 2
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.360 None 1.000 7 2002 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.360 None 1.000 6 1 2001 2015
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.350 None 1.000 6 2008 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.350 None 1.000 5 1 2001 2015
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.340 None 1.000 5 2001 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.340 None 1.000 4 1998 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.310 None 1.000 2 2012 2013
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.310 None 1.000 2 2007 2010
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.310 None 1.000 2 2001 2007
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.310 None 1.000 1 2011 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 2 2005 2007