UGP2, UDP-glucose pyrophosphorylase 2, 7360

N. diseases: 6; N. variants: 0
Source: CURATED ×
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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.300 None 1.000 1 2020 2020
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 18 62 0.300 None 1.000 1 2020 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 133 505 0.300 None 1.000 1 2020 2020
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 447 6 0.300 None 1.000 1 2020 2020
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 6 8 0.300 None 1.000 1 2020 2020
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 9 24 0.300 None 1.000 1 2020 2020