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: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 84 1 0.800 definitive 0.938 65 1999 2019
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 0.800 strong 0.957 47 2 2007 2019
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Neoplastic Process 1 14 0.720 definitive 1.000 20 14 1999 2018
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 103 0.700 definitive 0.974 155 1999 2019
CUI: C2750405
Disease: Malignant Rhabdoid Tumor, Somatic
Malignant Rhabdoid Tumor, Somatic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.600 definitive 1.000 8 1 1999 2013
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		disease Disease or Syndrome 1 8 0.600 strong 1.000 5 8 2012 2015
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.570 None 1.000 7 1 2012 2019
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.500 None 1.000 14 1999 2019
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 0.400 None 1.000 12 1999 2018
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 0.400 None 1.000 1 5 2014 2014
CUI: C1836326
Disease: Teratoid Tumor, Atypical
Teratoid Tumor, Atypical 		disease Neoplasms Neoplastic Process 1 0.320 definitive 1.000 10 1999 2013
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 2 2007 2013
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 2 2007 2013
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 193 11 0.200 None 1.000 27 3 1999 2019
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.190 None 1.000 9 1 2000 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.150 None 0.800 5 1999 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 0.667 3 1 2019 2019
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 34 11 0.130 None 1.000 3 1999 2014
CUI: C0348374
Disease: Malignant Central Nervous System Neoplasm
Malignant Central Nervous System Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 21 0.110 None 1.000 1 2013 2013
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 3 0.110 None 1.000 1 2013 2013
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.110 None 1.000 1 2013 2013
CUI: C0037930
Disease: Spinal Cord Neoplasms
Spinal Cord Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 27 1 0.110 None 1.000 1 2008 2008
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 1 2018 2018
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.936 218 1999 2020