RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
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: C1844810
Disease: Thick nasal septum
Thick nasal septum 		phenotype Finding 1 0.100 None 0
CUI: C1844818
Disease: Lumbar kyphosis
Lumbar kyphosis 		phenotype Finding 1 0.100 None 0
CUI: C1844822
Disease: Drumstick terminal phalanges
Drumstick terminal phalanges 		phenotype Finding 1 0.100 None 0
CUI: C4021804
Disease: Abnormality of the nasal alae
Abnormality of the nasal alae 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C3495439
Disease: Inflammatory disorder of breast
Inflammatory disorder of breast 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C2931507
Disease: Sternal cleft
Sternal cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C4023791
Disease: Abnormality of the clivus
Abnormality of the clivus 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		phenotype Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		disease Anatomical Abnormality 5 2 0.100 None 0
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 9 0.710 strong 1.000 3 9 1996 2006
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 1996 1996
CUI: C0678255
Disease: polydrug use
polydrug use 		disease Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2017 2017
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 1996 1996
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype Finding 8 0.100 None 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		phenotype Finding 9 0.100 None 0
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 11 1 0.100 None 0 1
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		disease Anatomical Abnormality 11 5 0.100 None 0 1
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		disease Anatomical Abnormality 11 1 0.100 None 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		phenotype Finding 11 1 0.100 None 0 1
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.100 None 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption 		phenotype Finding 12 0.100 None 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		phenotype Finding 12 1 0.100 None 0
CUI: C0042420
Disease: Vasovagal syncope
Vasovagal syncope 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2018 2018