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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 139 0.18 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 138 0.18 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 108 0.16 1 1.3E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 68 0.15 2 8.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 162 0.14 4 6.8E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 66 0.14 2 5.9E-02
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 54 0.14 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 71 0.14 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 78 0.14 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 59 0.14 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 60 0.14 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 52 0.14 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 99 0.13 1 2.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 73 0.13 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 100 0.13 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 71 0.13 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 129 0.13 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 122 0.12 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 60 0.12 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 44 0.12 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 55 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 136 0.12 1 5.6E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 67 0.12 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 55 0.12 1 3.3E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 50 0.12 0 0