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: 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
Other deletions of part of a chromosome
disease Congenital Abnormality 2 0.200 None 1.000 3 2006 2016
High Grade Intraepithelial Neoplasia
disease Neoplasms Neoplastic Process 38 0.010 None 1.000 1 2018 2018
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 66 1 0.300 None 1.000 1 2017 2017
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: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 2017 2017
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 98 7 0.010 None 1.000 1 2019 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
disease Eye Diseases Acquired Abnormality 102 0.010 None 1.000 1 2016 2016
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.010 None 1.000 1 2000 2000
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 123 0.010 None 1.000 1 2013 2013
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.010 None 1.000 1 2016 2016
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.010 None 1.000 1 2017 2017
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2017 2017
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2013 2013
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 288 4 0.010 None 1.000 1 2013 2013
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: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
disease Digestive System Diseases; Neoplasms Neoplastic Process 425 81 0.010 None 1.000 1 2018 2018
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 2013 2013
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 498 75 0.010 None 1.000 1 2018 2018