SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
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: C0014536
Disease: Epidural Neoplasms
Epidural Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor
disease Nervous System Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4021573
Disease: Patchy hypo- and hyperpigmentation
Patchy hypo- and hyperpigmentation
disease Disease or Syndrome 3 0.100 None 0
CUI: C0152444
Disease: Hydrorhachis
Hydrorhachis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0741585
Disease: BODY ACHE
BODY ACHE
phenotype Sign or Symptom 4 1 0.010 None 1.000 1 2019 2019
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears
phenotype Finding 4 0.100 None 0
CUI: C4023703
Disease: Abnormality of the Leydig cells
Abnormality of the Leydig cells
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4023422
Disease: Long palm
Long palm
phenotype Finding 5 2 0.100 None 0
CUI: C0558116
Disease: Distorted body image
Distorted body image
disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2018 2018
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype
disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2014 2014
CUI: C4727182
Disease: Recurrent Cushing Disease
Recurrent Cushing Disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis
phenotype Eye Diseases Finding 6 4 0.100 None 0
CUI: C4021168
Disease: Slender toe
Slender toe
phenotype Finding 6 2 0.100 None 0
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C1864375
Disease: Long hallux
Long hallux
phenotype Finding 7 0.100 None 0
CUI: C0740418
Disease: Chronic back pain
Chronic back pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C1696701
Disease: Skin-picking
Skin-picking
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 2017 2017
CUI: C4015558
Disease: Temple syndrome
Temple syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0221776
Disease: Oral pain
Oral pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 11 0.010 None 1.000 1 2018 2018
Secondary malignant neoplasm of bone marrow
disease Neoplasms; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 1993 1993
Secondary malignant neoplasm of vertebral column
disease Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity
disease Acquired Abnormality 16 3 0.030 None 1.000 3 2017 2019
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases
group Musculoskeletal Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
disease Eye Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2017 2017
CUI: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.010 None 1.000 1 2017 2017