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: C1820737
Disease: Temperature instability
Temperature instability 		12 8 2 5.6E-02 2 0.13
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 8 2 5.6E-02 3 0.21
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		13 4 2 5.4E-02 1 8.3E-02
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 2 5.3E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 2 5.3E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 5 5.3E-02 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 2 5.3E-02 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 2 5.3E-02 0 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		14 0 2 5.3E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 5 4 5.2E-02 1 7.7E-02
CUI: C0392156
Disease: Akathisia
Akathisia 		15 0 2 5.1E-02 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 2 5.1E-02 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 2 5.1E-02 0 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal 		16 0 2 5.0E-02 0 0
CUI: C4073184
Disease: Thick hair
Thick hair 		16 3 2 5.0E-02 1 9.1E-02
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 2 4.9E-02 0 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		17 0 2 4.9E-02 0 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		17 0 2 4.9E-02 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 2 4.8E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 5 4.7E-02 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 2 4.7E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 4 4.7E-02 3 7.5E-02
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		20 4 2 4.5E-02 1 8.3E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 2 4.5E-02 1 5.3E-02
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 3 4.5E-02 0 0