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 57 110 0.11 1 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 230 0.11 2 3.4E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 161 0.11 1 3.1E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 173 0.11 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		127 0 63 0.11 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 109 0.11 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 100 0.10 1 1.5E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea 		632 0 105 1.0E-01 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 96 1.0E-01 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 136 9.6E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 85 9.5E-02 0 0
CUI: C0015967
Disease: Fever
Fever 		1021 66 133 9.4E-02 1 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 229 9.4E-02 4 6.9E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 135 9.3E-02 0 0
CUI: C0023895
Disease: Liver diseases
Liver diseases 		1019 0 131 9.3E-02 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 0 123 9.3E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 107 9.3E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 70 9.2E-02 0 0
CUI: C0033687
Disease: Proteinuria
Proteinuria 		239 0 64 9.2E-02 0 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		919 0 121 9.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 102 9.0E-02 1 8.5E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 50 8.9E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 67 8.9E-02 0 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		559 0 88 8.9E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 81 8.9E-02 0 0