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: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
disease Eye Diseases Acquired Abnormality 102 0.010 None 1.000 1 2016 2016
Other deletions of part of a chromosome
disease Congenital Abnormality 2 0.200 None 1.000 3 2006 2016
CUI: C2675857
Disease: Holoprosencephaly 10
Holoprosencephaly 10
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.200 None 1.000 3 2006 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2003 2003
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2010 2010
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2016 2016
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.010 None 1.000 1 2019 2019
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.010 None 1.000 1 2000 2000
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.010 None 1.000 1 2016 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.310 limited 1.000 1 2018 2018
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder
phenotype Digestive System Diseases Disease or Syndrome 346 0.010 None < 0.001 1 2018 2018
CUI: C2931618
Disease: Gestational trophoblastic disease
Gestational trophoblastic disease
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 75 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 20 2002 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0.900 10 2010 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.070 None 0.857 7 2013 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 1996 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2017 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 1996 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.330 None 1.000 4 2003 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.320 None 1.000 3 2016 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.320 None 1.000 3 2017 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2015 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.020 None 1.000 2 2005 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2017 2019