Source: ALL
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: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism 		7 0 3 0.30 0 0
CUI: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase 		1 0 1 0.17 0 0
CUI: C0856123
Disease: Myotonia aggravated
Myotonia aggravated 		1 0 1 0.17 0 0
CUI: C1456270
Disease: Fatty acid oxidation disorder
Fatty acid oxidation disorder 		1 0 1 0.17 0 0
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome 		1 0 1 0.17 0 0
CUI: C1850722
Disease: Transient hyperlipidemia
Transient hyperlipidemia 		1 0 1 0.17 0 0
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		8 0 2 0.17 0 0
CUI: C1858891
Disease: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS 		1 0 1 0.17 0 0
CUI: C1860081
Disease: Medium chain dicarboxylic aciduria
Medium chain dicarboxylic aciduria 		1 0 1 0.17 0 0
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		1 0 1 0.17 0 0
CUI: C1868619
Disease: Paramyotonia Congenita Without Cold Paralysis
Paramyotonia Congenita Without Cold Paralysis 		1 0 1 0.17 0 0
CUI: C3149517
Disease: LARYNGOSPASM, SEVERE NEONATAL EPISODIC
LARYNGOSPASM, SEVERE NEONATAL EPISODIC 		1 0 1 0.17 0 0
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		1 0 1 0.17 0 0
CUI: C3489447
Disease: Hyperkalemic Periodic Paralysis Type 2
Hyperkalemic Periodic Paralysis Type 2 		1 0 1 0.17 0 0
CUI: C4016868
Disease: PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA 		1 0 1 0.17 0 0
CUI: C4016869
Disease: MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE 		1 0 1 0.17 0 0
CUI: C4022414
Disease: Elevated urinary 3-hydroxybutyric acid
Elevated urinary 3-hydroxybutyric acid 		1 0 1 0.17 0 0
CUI: C4022682
Disease: Cold-sensitive myotonia
Cold-sensitive myotonia 		1 0 1 0.17 0 0
CUI: C4022684
Disease: Myotonia of the lower limb
Myotonia of the lower limb 		1 0 1 0.17 0 0
CUI: C4022685
Disease: Myotonia of the jaw
Myotonia of the jaw 		1 0 1 0.17 0 0
CUI: C4022686
Disease: Myotonia of the face
Myotonia of the face 		1 0 1 0.17 0 0
CUI: C4022691
Disease: Facial muscle hypertrophy
Facial muscle hypertrophy 		1 0 1 0.17 0 0
CUI: C4023179
Disease: Paradoxical myotonia
Paradoxical myotonia 		1 0 1 0.17 0 0
CUI: C4531172
Disease: Cold paresis
Cold paresis 		1 0 1 0.17 0 0
CUI: C4749136
Disease: CPT1A ARCTIC VARIANT
CPT1A ARCTIC VARIANT 		1 0 1 0.17 0 0