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: C1860320
Disease: Bone marrow hypercellularity
Bone marrow hypercellularity
phenotype Finding 26 0.100 None 0
CUI: C1839783
Disease: Large forehead
Large forehead
phenotype Finding 14 1 0.100 None 0
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.100 None 0
CUI: C4016406
Disease: COLON CANCER, ADVANCED, SOMATIC
COLON CANCER, ADVANCED, SOMATIC
disease Neoplastic Process 1 1 0.100 None 0 1
Hereditary nonpolyposis colorectal carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 28 5 0.100 None 0
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 71 0.100 None 0
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.100 None 0 1
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2016 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.500 None 1.000 1 2006 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.310 None 1.000 1 2007 2007
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2006 2006
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 0.300 None 1.000 1 2006 2006
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.300 None 1.000 1 2008 2008
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2006 2006
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.300 strong 1.000 1 2016 2016
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.300 None 1.000 1 2007 2007
Autosomal Recessive Polycystic Kidney Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 69 317 0.300 None 1.000 1 2008 2008
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2008 2008
CUI: C0270823
Disease: Petit mal status
Petit mal status
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 0.300 None 1.000 1 2006 2006
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 2011 2011
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2006 2006