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: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 7 0.720 1.000 9 7 1992 2017
CUI: C1845181
Disease: MENTAL RETARDATION, X-LINKED 78
MENTAL RETARDATION, X-LINKED 78
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.500 2 2010 2016
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 0.480 strong 1.000 8 2010 2018
CUI: C0796224
Disease: MENTAL RETARDATION, X-LINKED 18
MENTAL RETARDATION, X-LINKED 18
disease Disease or Syndrome 3 1 0.400 4 1 1994 2017
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 117 11 0.320 1.000 3 1992 2010
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 10 0.300 0
Chromosome Xp11.23-P11.22 Duplication Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.110 1.000 1 2017 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 2015 2015
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 411 202 0.110 1.000 1 2016 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 1992 1992
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 1 1 2015 2015
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth
phenotype Finding 12 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1850072
Disease: Tented upper lip
Tented upper lip
phenotype Finding 37 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1853383
Disease: Tented mouth
Tented mouth
phenotype Finding 37 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital Abnormality 129 4 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C0743359
Disease: Chronic ear infection
Chronic ear infection
disease Disease or Syndrome 62 0.100 0