Source: ALL

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: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		disease 0.710 strong 1.000 5 11 1996 2018
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.570 strong 1.000 8 0 1996 2018
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.130 None 1.000 3 1 1998 2014
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		phenotype 0.100 None 0 1
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype 0.100 None 0 1
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1855790
Disease: Hepatic glycogen storage
Hepatic glycogen storage 		phenotype 0.100 None 0 1
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype 0.100 None 0 0