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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 15 8.1E-03 1 1.8E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 49 7.7E-02 2 1.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 27 3.1E-02 1 7.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 5 1.2E-02 2 2.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 3 6.3E-03 2 2.2E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 38 6.9E-02 1 1.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 23 4.4E-02 3 4.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 10 1.9E-02 2 3.0E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 8 5.0E-02 2 3.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0 58 0 0 1 1.6E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 2 2.2E-02 2 3.4E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 21 5.0E-02 2 3.8E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 17 8.4E-02 2 4.3E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 2 2.5E-02 2 5.1E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 2 4.4E-03 2 5.4E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 2 8.7E-03 2 5.6E-02
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		4 30 1 1.9E-02 1 3.0E-02
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		1 27 1 2.0E-02 1 3.3E-02
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		17 26 1 1.5E-02 1 3.4E-02
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		61 24 10 9.9E-02 1 3.7E-02
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		12 24 2 3.3E-02 1 3.7E-02
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		19 19 2 3.0E-02 1 4.5E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 2 2.3E-02 3 0.15
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 25 0.11 1 5.3E-02
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		11 15 1 1.7E-02 2 0.12