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: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		disease Disease or Syndrome 1 20 0.600 None 1.000 8 20 2014 2019
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		phenotype Finding 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
Dilatation of pulmonary artery, unspecified 		disease Disease or Syndrome 2 2 0.100 None 1.000 1 1 2018 2018
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 30 0.010 None 1.000 1 2017 2017
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: 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: C1136042
Disease: Neuroma, Acoustic, Bilateral
Neuroma, Acoustic, Bilateral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 4 0.010 None 1.000 1 2019 2019
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: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 5 4 0.100 None 1.000 1 1 2018 2018
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Finding 5 1 0.100 None 1.000 1 1 2018 2018
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype Finding 6 14 0.300 None 1.000 1 2 2018 2018
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		disease Anatomical Abnormality 7 5 0.100 None 1.000 1 1 2018 2018
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 1.000 1 2018 2018
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 1.000 1 2018 2018
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 3 0.100 None 1.000 1 1 2018 2018
CUI: C2931480
Disease: Neurofibromatosis, Type 3, mixed central and peripheral
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: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 1 0.100 None 0
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: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2019 2019
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
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: 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: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
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