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: C4531203
Disease: Cardiomyocyte mitochondrial proliferation
Cardiomyocyte mitochondrial proliferation 		2 0 2 0.40 0 0
CUI: C0154141
Disease: Thyrotoxicosis with toxic single thyroid nodule
Thyrotoxicosis with toxic single thyroid nodule 		3 0 1 0.14 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 1 0.14 0 0
CUI: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		3 0 2 0.33 0 0
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		3 0 1 0.14 0 0
CUI: C3267178
Disease: Axial myopathy
Axial myopathy 		3 0 1 0.14 0 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy 		3 0 1 0.14 0 0
CUI: C4023104
Disease: Intermittent painful muscle spasms
Intermittent painful muscle spasms 		3 0 2 0.33 0 0
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy 		3 0 1 0.14 0 0
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria 		3 0 1 0.14 0 0
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		3 0 1 0.14 0 0
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		4 0 1 0.12 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 0.12 0 0
CUI: C3714697
Disease: AV Block Second Degree by ECG Finding
AV Block Second Degree by ECG Finding 		4 0 1 0.12 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 0.12 1 0.33
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 6 1 0.12 1 0.14
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		4 0 1 0.12 0 0
CUI: C0155922
Disease: Tooth development and eruption disorder
Tooth development and eruption disorder 		5 0 1 0.11 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		5 3 1 0.11 1 0.25
CUI: C0264906
Disease: Second degree atrioventricular block
Second degree atrioventricular block 		5 0 1 0.11 0 0
CUI: C0750194
Disease: Non-sustained ventricular tachycardia
Non-sustained ventricular tachycardia 		5 0 1 0.11 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 0 1 0.11 0 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		5 0 1 0.11 0 0
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.11 1 0.25
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 3 1 0.11 2 0.67