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: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
disease Disease or Syndrome 1 6 0.910 None 1.000 9 6 2006 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.900 strong 1.000 14 1 2014 2020
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 4 15 0.620 strong 1.000 6 15 2015 2020
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.600 None 1.000 17 2014 2020
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2
disease Disease or Syndrome 1 20 0.600 None 1.000 8 20 2014 2019
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 95 3 0.500 None 1.000 3 2013 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.330 None 1.000 4 2013 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.330 None 1.000 4 2013 2020
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency
phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.300 strong 1.000 2 2015 2018
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
disease Neoplasms Neoplastic Process 80 5 0.300 None 1.000 2 2013 2013
Neurofibromatosis, Type 3, mixed central and peripheral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 15 0.300 None 1.000 1 2014 2014
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
phenotype Finding 6 14 0.300 None 1.000 1 2 2018 2018
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 1 2014 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.300 None 1.000 1 2015 2015
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 3 5 0.300 None 1.000 1 2014 2014
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 28 82 0.300 0
Noonan-Like Syndrome With Loose Anagen Hair
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.300 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 50 24 0.300 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.300 strong 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 47 27 0.300 0
Noonan syndrome-like disorder with loose anagen hair
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.200 None 1.000 1 2018 2018
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.200 None 1.000 1 2018 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 20 3 0.200 None 1.000 1 2018 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.200 None 1.000 1 2018 2018