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: C0334113
Disease: Eosinophilic granulomatous polyp
Eosinophilic granulomatous polyp
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 1 0.030 None 1.000 3 2009 2018
CUI: C0948384
Disease: Cerebral hygroma
Cerebral hygroma
disease Neoplastic Process 1 0.010 None 1.000 1 2004 2004
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
disease Neoplastic Process 1 0.300 None 1.000 1 2013 2013
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
disease Digestive System Diseases; Neoplasms Disease or Syndrome 1 2 0.100 None 0 2
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
phenotype Finding 1 1 0.100 None 0 1
CUI: C0206143
Disease: Loeffler's Endocarditis
Loeffler's Endocarditis
disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 2 2006 2017
CUI: C0544799
Disease: Histiocytosis, generalized eruptive
Histiocytosis, generalized eruptive
disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1290854
Disease: Disorder of skull
Disorder of skull
group Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1302645
Disease: Polyp of small intestine
Polyp of small intestine
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 0.010 None 1.000 1 2009 2009
CUI: C1334378
Disease: Laryngeal Small Cell Carcinoma
Laryngeal Small Cell Carcinoma
disease Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1516858
Disease: Endometrial Small Cell Carcinoma
Endometrial Small Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2010 2010
hereditary gastrointestinal stromal tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2010 2010
Congenital abnormality of respiratory system
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 3 0.300 None 1.000 1 2000 2000
Metastatic Childhood Soft Tissue Sarcoma
disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0542080
Disease: Marrow hypercellular
Marrow hypercellular
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C2853920
Disease: Lymphoblastic T-cell lymphoma
Lymphoblastic T-cell lymphoma
disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C3887518
Disease: Adult Myxopapillary Ependymoma
Adult Myxopapillary Ependymoma
disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2010 2010
CUI: C4724394
Disease: Metastatic Soft Tissue Sarcoma
Metastatic Soft Tissue Sarcoma
disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0238114
Disease: Leiomyoma of esophagus
Leiomyoma of esophagus
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2006 2006
CUI: C0345946
Disease: Squamous cell carcinoma of trachea
Squamous cell carcinoma of trachea
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C0346202
Disease: Cervical Adenosquamous Carcinoma
Cervical Adenosquamous Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 4 1 0.010 None 1.000 1 2009 2009
Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C2987262
Disease: Esophageal Neuroendocrine Carcinoma
Esophageal Neuroendocrine Carcinoma
disease Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C0751552
Disease: Malignant neoplasm of thymus
Malignant neoplasm of thymus
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 6 0.010 None 1.000 1 2015 2015
CUI: C2718076
Disease: Fetal Mummification
Fetal Mummification
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 6 0.300 None 1.000 1 2000 2000