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: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		disease Disease or Syndrome 1 6 0.700 None 1.000 3 6 2013 2017
CUI: C0341790
Disease: Neoplasm of scrotum
Neoplasm of scrotum 		disease Neoplasms; Skin and Connective Tissue Diseases; Male Urogenital Diseases Neoplastic Process 1 0.100 None 0
CUI: C4023120
Disease: Abnormality of the superior cerebellar peduncle
Abnormality of the superior cerebellar peduncle 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021989
Disease: Abnormality of the thoracic spine
Abnormality of the thoracic spine 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025734
Disease: Abnormality of the scalp
Abnormality of the scalp 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4476918
Disease: Elevated carcinoma antigen 125 level
Elevated carcinoma antigen 125 level 		phenotype Finding 2 0.100 None 0
CUI: C1956093
Disease: Paris-Trousseau Thrombocytopenia
Paris-Trousseau Thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.360 None 1.000 8 1995 2017
CUI: C0279609
Disease: blastema predominant Wilms tumor
blastema predominant Wilms tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.010 None 1.000 1 2002 2002
CUI: C3267070
Disease: Oesophageal fibrosis
Oesophageal fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0347944
Disease: Pelvic mass
Pelvic mass 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 3 0.100 None 0
CUI: C1333378
Disease: Central Nervous System Embryonal Neoplasm
Central Nervous System Embryonal Neoplasm 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C0877849
Disease: Askin's tumor
Askin's tumor 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 6 0.020 None 1.000 2 1994 2007
CUI: C0854443
Disease: Vascular fragility
Vascular fragility 		phenotype Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C0334403
Disease: Juvenile granulosa cell tumor
Juvenile granulosa cell tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 7 0.010 None 1.000 1 2014 2014
CUI: C3489398
Disease: Neuroepithelioma, Peripheral
Neuroepithelioma, Peripheral 		disease Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 7 0.010 None 1.000 1 1994 1994
CUI: C1864375
Disease: Long hallux
Long hallux 		phenotype Finding 7 0.100 None 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma 		disease Neoplasms Neoplastic Process 10 0.310 None 1.000 5 1997 2012
CUI: C1332982
Disease: Childhood Mesenchymal Chondrosarcoma
Childhood Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2011 2011
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2014 2014
CUI: C0239377
Disease: Arm Pain
Arm Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 10 6 0.100 None 0
CUI: C1851059
Disease: Broad columella
Broad columella 		phenotype Finding 10 0.100 None 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		disease Congenital Abnormality 11 0.100 None 0
CUI: C0279622
Disease: Small cell osteosarcoma
Small cell osteosarcoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype Finding 14 1 0.100 None 0