SHPK, sedoheptulokinase, 23729

N. diseases: 27; N. variants: 2
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: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase
disease Disease or Syndrome 1 2 0.600 limited 1.000 2 2 2015 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 0
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease
disease Digestive System Diseases Disease or Syndrome 58 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial
phenotype Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation
phenotype Finding 30 5 0.100 None 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
disease Anatomical Abnormality 9 4 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
phenotype Finding 77 3 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 45 5 0.100 None 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 30 11 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0019158
Disease: Hepatitis
Hepatitis
group Digestive System Diseases Disease or Syndrome 656 42 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.100 None 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea
phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti
disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 22 1 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0