Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
1 0 1 1.00 0 0
GSD IV, Neuromuscular Form, Congenital
1 0 1 1.00 0 0
GSD IV, Neuromuscular Form, Childhood
1 0 1 1.00 0 0
Fetal hydrops (in perinatal or congenital neuromuscular forms)
1 0 1 1.00 0 0
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
1 0 1 1.00 0 0
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
1 0 1 1.00 0 0
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
1 0 1 1.00 0 0
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY
1 0 1 1.00 0 0
Polyglucosan Body Disease, Adult Form
3 0 1 0.33 0 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
8 0 1 0.12 0 0
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
8 0 1 0.12 0 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
9 0 1 0.11 0 0
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
10 0 1 1.0E-01 0 0
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
10 0 1 1.0E-01 0 0
Carnitine palmitoyl transferase 2 deficiency
11 0 1 9.1E-02 0 0
Early severe fetal akinesia sequence
12 0 1 8.3E-02 0 0
Abnormal upper motor neuron morphology
20 0 1 5.0E-02 0 0
Trifunctional Protein Deficiency With Myopathy And Neuropathy
23 0 1 4.3E-02 0 0
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
26 0 1 3.8E-02 0 0
Urinary bladder sphincter dysfunction
28 0 1 3.6E-02 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
31 0 1 3.2E-02 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
40 0 1 2.5E-02 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
42 0 1 2.4E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
43 0 1 2.3E-02 0 0
CUI: C0085623
Disease: Akinesia
Akinesia
43 0 1 2.3E-02 0 0