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: C3890168
Disease: MENTAL RETARDATION, X-LINKED 101
MENTAL RETARDATION, X-LINKED 101
disease Disease or Syndrome 1 1 0.600 1 1 2014 2014
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 0.300 0
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 0.110 1.000 1 1 2014 2014
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Finding 81 12 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4280574
Disease: Problems speaking
Problems speaking
phenotype Finding 72 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 0
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 0.100 0
CUI: C0746940
Disease: Nonverbal
Nonverbal
phenotype Finding 75 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 708 59 0.100 0
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 3 0.020 1.000 2 1999 2002
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.020 1.000 2 2002 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.010 1.000 1 2013 2013
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 0.010 1.000 1 1 2014 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.010 1.000 1 2013 2013