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: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		group Neoplasms; Cardiovascular Diseases Neoplastic Process 15 0.010 None 1.000 1 2017 2017
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation 		phenotype Finding 16 0.100 None 0
CUI: C0025874
Disease: Metrorrhagia
Metrorrhagia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 17 2 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.100 None 0.938 16 1992 2020
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2011 2011
CUI: C3495436
Disease: American cutaneous leishmaniasis
American cutaneous leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		disease Digestive System Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0023288
Disease: Infection by Leishmania braziliensis
Infection by Leishmania braziliensis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.030 None 1.000 3 2011 2017
CUI: C0263009
Disease: Sclerosis of the skin
Sclerosis of the skin 		disease Disease or Syndrome 22 0.020 None 1.000 2 2003 2012
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		group Neoplasms; Eye Diseases Neoplastic Process 24 0.010 None 1.000 1 1999 1999
CUI: C1367554
Disease: Adamantinoma
Adamantinoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 24 0.010 None 1.000 1 2019 2019
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2014 2014
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2014 2014
CUI: C0037930
Disease: Spinal Cord Neoplasms
Spinal Cord Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 27 1 0.100 None 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype Finding 27 0.100 None 0
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.500 None 0.923 13 1 2000 2019
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma 		disease Neoplastic Process 28 0.020 None 1.000 2 1993 1994
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		disease Neoplasms Neoplastic Process 29 0.010 None 1.000 1 2014 2014
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 18 0.010 None 1.000 1 2012 2012
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 1997 1997
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 1997 1997