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: C1517445
Disease: Ganglioneuroblastoma, Nodular
Ganglioneuroblastoma, Nodular
disease Neoplasms Neoplastic Process 1 0.030 None 1.000 3 2001 2017
CUI: C4725878
Disease: Unresectable Neuroblastoma
Unresectable Neuroblastoma
disease Neoplasms Neoplastic Process 1 0.030 None 1.000 3 2011 2015
CUI: C4725876
Disease: Resectable Neuroblastoma
Resectable Neuroblastoma
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2008 2008
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 12 0.710 None 0.750 4 12 2005 2018
CUI: C1517444
Disease: Ganglioneuroblastoma, Intermixed
Ganglioneuroblastoma, Intermixed
disease Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2001 2017
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2013 2017
CUI: C4024986
Disease: Congenital neuroblastoma
Congenital neuroblastoma
disease Neoplasms Neoplastic Process 2 2 0.010 None 1.000 1 2019 2019
CUI: C4755297
Disease: Somatomammotropinoma
Somatomammotropinoma
disease Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C0238432
Disease: Ependymoma of spinal cord
Ependymoma of spinal cord
disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C0278719
Disease: Extraocular retinoblastoma
Extraocular retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 3 0.010 None 1.000 1 1989 1989
CUI: C1332215
Disease: Adult Spinal Cord Ependymoma
Adult Spinal Cord Ependymoma
disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C2608045
Disease: Trilateral Retinoblastoma
Trilateral Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 3 1 0.010 None 1.000 1 2019 2019
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
phenotype Finding 4 0.100 None 0
CUI: C4024981
Disease: Localized neuroblastoma
Localized neuroblastoma
disease Neoplasms Neoplastic Process 5 0.040 None 1.000 4 1995 2013
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
phenotype Finding 5 0.100 None 0
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
phenotype Finding 5 0.100 None 0
Oculodigitoesophagoduodenal syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 1 0.650 None 1.000 8 1 1997 2012
CUI: C0795796
Disease: Chromosome 1, monosomy 1p
Chromosome 1, monosomy 1p
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.020 None 1.000 2 2003 2005
CUI: C1336257
Disease: Stage 3 Neuroblastoma
Stage 3 Neuroblastoma
disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2009 2009
CUI: C4726566
Disease: Extracranial Solid Neoplasm
Extracranial Solid Neoplasm
disease Neoplastic Process 8 0.010 None 1.000 1 2016 2016
CUI: C0241577
Disease: Elevated urinary catecholamines
Elevated urinary catecholamines
phenotype Finding 8 0.100 None 0
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 9 4 0.010 None 1.000 1 2017 2017
CUI: C1622510
Disease: Neurocytoma
Neurocytoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 10 0.010 None 1.000 1 2008 2008
CUI: C0278695
Disease: Neuroblastoma recurrent
Neuroblastoma recurrent
disease Neoplasms; Endocrine System Diseases Neoplastic Process 11 2 0.010 None 1.000 1 2017 2017
CUI: C0496836
Disease: Malignant tumor of eye
Malignant tumor of eye
disease Neoplasms; Eye Diseases Neoplastic Process 11 0.010 None 1.000 1 2015 2015