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: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 196 246 1.000 definitive 0.987 246 91 1990 2018
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 12 78 0.790 definitive 1.000 48 78 1996 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 62 10 0.700 1.000 29 4 1971 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.620 1.000 4 1999 2012
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 12 0.610 1.000 3 4 2002 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.600 0.938 33 2 1993 2016
Conventional (Clear Cell) Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 630 29 0.580 1.000 9 1995 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.500 1.000 24 1 1988 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.500 1.000 16 1997 2016
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.500 0.929 14 5 1993 2016
Focal Cortical Dysplasia of Taylor, Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 6 0.500 2 1 2002 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.480 0.875 10 2 1999 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.470 strong 0.857 11 1997 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.400 0.935 31 1993 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.400 1.000 15 1991 2016
Fibrous skin tumor of tuberous sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 20 1 0.400 4 1 2008 2015
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 115 6 0.400 1 2017 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.350 1.000 5 1996 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.330 1.000 4 2001 2015
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 249 14 0.320 1.000 3 2007 2016
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 491 100 0.320 1.000 3 1996 2008
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.310 moderate 5 2002 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.310 1.000 1 2017 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 4 2002 2017
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 2 2002 2011