NANS, N-acetylneuraminate synthase, 54187

N. diseases: 153; N. variants: 11
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: C1332591
Disease: Bone Surface (Peripheral) Osteosarcoma
Bone Surface (Peripheral) Osteosarcoma 		disease Neoplastic Process 2 0.010 None 1.000 1 1996 1996
CUI: C1864872
Disease: Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Genevieve type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 10 0.700 strong 1.000 1 10 2016 2016
CUI: C1850196
Disease: Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C1848109
Disease: Long fibula
Long fibula 		phenotype Finding 4 0.100 None 0
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype Finding 8 0.100 None 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype Finding 10 0.100 None 0
CUI: C0520676
Disease: Premenstrual Dysphoric Disorder
Premenstrual Dysphoric Disorder 		disease Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction 12 4 0.010 None 1.000 1 2017 2017
CUI: C0281902
Disease: maladjustment
maladjustment 		phenotype Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2019 2019
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 21 12 0.010 None 1.000 1 2017 2017
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype Finding 21 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C0022118
Disease: Transient ischemia
Transient ischemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2016 2016
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2016 2016
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype Finding 31 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
CUI: C0031572
Disease: Phobia, Social
Phobia, Social 		disease Mental Disorders Mental or Behavioral Dysfunction 33 8 0.010 None 1.000 1 2019 2019
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2018 2018
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype Finding 34 0.100 None 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0700613
Disease: Anxiety state
Anxiety state 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 40 6 0.010 None 1.000 1 2017 2017
CUI: C2960127
Disease: Heart failure with normal ejection fraction
Heart failure with normal ejection fraction 		disease Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 2019