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: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 7 0.700 strong 1.000 1 7 2007 2007
CUI: C4022563
Disease: Abnormality of muscle size
Abnormality of muscle size 		phenotype Finding 1 0.100 None 0
CUI: C1845370
Disease: Retrocerebellar cyst
Retrocerebellar cyst 		phenotype Finding 4 0.100 None 0
CUI: C0016722
Disease: Frigidity
Frigidity 		disease Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C0029261
Disease: Orgasmic Disorder
Orgasmic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C0033953
Disease: Psychosexual Disorders
Psychosexual Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C1835801
Disease: Eversion of lateral third of lower eyelids
Eversion of lateral third of lower eyelids 		phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C1856117
Disease: Uplifted earlobe
Uplifted earlobe 		disease Anatomical Abnormality 6 3 0.100 None 0
CUI: C0020594
Disease: Hypoactive Sexual Desire Disorder
Hypoactive Sexual Desire Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
CUI: C0036902
Disease: Sexual Arousal Disorder
Sexual Arousal Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
CUI: C1835095
Disease: Macrodontia of permanent maxillary central incisor
Macrodontia of permanent maxillary central incisor 		phenotype Finding 8 1 0.100 None 0
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		phenotype Finding 10 0.100 None 0
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 1 0.300 limited 1.000 6 1999 2014
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		phenotype Finding 12 1 0.100 None 0
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Finding 14 3 0.100 None 0
CUI: C0746408
Disease: mass lesion
mass lesion 		phenotype Neoplastic Process 15 2 0.010 None 1.000 1 1997 1997
CUI: C2930868
Disease: Rasmussen subacute encephalitis
Rasmussen subacute encephalitis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 1 0.050 None 1.000 5 1995 2004
CUI: C0393484
Disease: Rasmussen Syndrome
Rasmussen Syndrome 		disease Nervous System Diseases Disease or Syndrome 18 3 0.050 None 1.000 5 1995 2004
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2002 2002
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease Anatomical Abnormality 32 4 0.100 None 0
CUI: C1533217
Disease: Methamphetamine dependence
Methamphetamine dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 33 9 0.010 None 1.000 1 2018 2018