Source: INFERRED ×
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: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.700 strong 1.000 1 25 2008 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1259 0.200 None 1.000 0 2008 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 334 0.110 None 1.000 0 11 2016 2016
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 0.100 None 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 16 0.100 None 0 1
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 0.100 None 0 1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 0.100 None 0 2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.100 None 0 2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 116 0.100 None 0
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0 1
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 0.100 None 0 1
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 0.100 None 0 1
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype Finding 14 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 0 2
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 0.100 None 0 1
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 0.100 None 0
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		phenotype Finding 1 0.100 None 0 3
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum 		phenotype Finding 4 0.100 None 0 1
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 0.100 None 0 1
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 0.100 None 0 1
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 0.100 None 0 2
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0