Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Polyglucosan Body Disease, Adult Form
1 7 1 1.00 0 2 0.17 0
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
1 8 1 1.00 0 7 0.88 0
CUI: C1856302
Disease: GSD IV, Nonprogressive Hepatic
GSD IV, Nonprogressive Hepatic
1 7 1 1.00 0 7 1.00 0
GSD IV, Neuromuscular Form, Congenital
1 13 1 1.00 0 7 0.54 0
GSD IV, Neuromuscular Form, Childhood
1 8 1 1.00 0 7 0.88 0
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
1 7 1 1.00 0 7 1.00 0
Cirrhosis, familial, with deposition of abnormal glycogen
1 7 1 1.00 0 7 1.00 0
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
1 2 1 1.00 0 2 0.29 0
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
1 1 1 1.00 0 1 0.14 0
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
1 2 1 1.00 0 1 0.12 0
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY
1 5 1 1.00 0 3 0.33 0
CUI: C0426359
Disease: Urinary symptoms
Urinary symptoms
2 0 1 0.50 0 0 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
6 74 1 0.17 0 0 0
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
8 15 1 0.12 0 7 0.47 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
12 1 1 8.3E-02 0 0 0
CUI: C0085623
Disease: Akinesia
Akinesia
22 3 1 4.5E-02 0 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
44 3 1 2.3E-02 0 0 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
7 47 1 0.14 1.0E-03 0 0
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
8 10 1 0.12 1.0E-03 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
12 1 1 8.3E-02 1.0E-03 0 0
CUI: C4476544
Disease: Tubulointerstitial scarring
Tubulointerstitial scarring
13 0 1 7.7E-02 1.0E-03 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices
14 1 1 7.1E-02 1.0E-03 0 0
Abnormal upper motor neuron morphology
14 1 1 7.1E-02 1.0E-03 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
15 0 1 6.7E-02 1.0E-03 0 0
Urinary bladder sphincter dysfunction
20 1 1 5.0E-02 1.0E-03 0 0