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: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 46 0.16 2 3.3E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 70 0.14 2 2.6E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 34 0.14 5 7.0E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 68 0.14 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 74 0.12 7 6.5E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 35 0.12 3 4.4E-02
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 22 0.12 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 36 0.11 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 29 0.11 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 27 0.11 1 1.6E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 36 0.11 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 47 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 45 0.10 2 3.1E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 3 24 0.10 1 2.1E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 8 27 0.10 1 1.9E-02
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 26 1.0E-01 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 26 1.0E-01 5 5.1E-02
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 21 1.0E-01 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 21 9.9E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 34 9.9E-02 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 41 9.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 97 9.4E-02 9 4.5E-02
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 18 9.2E-02 2 3.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 86 9.2E-02 3 1.7E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 54 9.2E-02 2 1.9E-02