Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020