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.
Neurodegeneration Due To Cerebral Folate Transport Deficiency
phenotype Nervous System Diseases Disease or Syndrome 3 2 0.760 definitive 1.000 14 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 0.600 strong 2 2009 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.400 0.909 12 1991 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.400 1 2009 2009
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2012 2012
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.400 strong 0 1
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 162 49 0.340 1.000 5 1 1998 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.330 1.000 4 1997 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 1102 74 0.310 1.000 1 2007 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.300 2 2005 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.300 2 2005 2009
CUI: C0679465
Disease: Psychomotor Impairment
Psychomotor Impairment
phenotype Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 8 0.300 1 2009 2009
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2005 2005
Brain Diseases, Metabolic, Inherited
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.300 1 2009 2009
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 7 0.300 1 2009 2009
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 60 0.300 1 2009 2009
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders
group Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 7 0.300 1 2009 2009
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 60 0.300 1 2009 2009
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 1 2005 2005
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2005 2005
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 1 2005 2005
CUI: C0266487
Disease: Etat Marbre
Etat Marbre
disease Nervous System Diseases Disease or Syndrome 23 0.300 1 2009 2009
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 62 1 0.300 1 2009 2009
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 0.300 1 2005 2005
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 1 2005 2005