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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.400 None 1.000 14 2004 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.400 None 1.000 12 2004 2019
Localized Primitive Neuroectodermal Tumor
disease Neoplasms Neoplastic Process 4 0.300 definitive 1.000 10 1996 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.200 None 1.000 10 2005 2017
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 54 1 0.740 strong 1.000 7 1 2002 2014
Medulloblastoma with extensive nodularity
disease Neoplasms Neoplastic Process 4 1 0.400 None 1.000 4 1 2002 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 1 2017 2019
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.440 None 1.000 4 1 2012 2018
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 12 22 0.300 None 1.000 3 2009 2014
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.030 None 1.000 3 2005 2018
Meningioma, benign, no ICD-O subtype
disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.020 None 1.000 2 2012 2018
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
disease Neoplasms; Nervous System Diseases Neoplastic Process 17 0.020 None 1.000 2 2012 2015
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.020 None 1.000 2 2012 2018
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.020 None 1.000 2 2017 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2017 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2011 2015
CUI: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32
disease Disease or Syndrome 1 2 0.600 None 1.000 2 2 2017 2019
Childhood Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2006 2006
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2013 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2006 2006
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 121 8 0.010 None 1.000 1 2006 2006
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma
disease Neoplasms Neoplastic Process 16 1 0.010 None 1.000 1 2006 2006