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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 0 1 1.7E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 51 1 1.8E-03 1 1.8E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
560 635 1 1.8E-03 1 1.6E-03
Delayed speech and language development
560 0 1 1.8E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 0 1 1.9E-03 0 0
CUI: C0040822
Disease: Tremor
Tremor
528 0 1 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 1 2.1E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 1 2.1E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
441 0 1 2.3E-03 0 0
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
433 0 1 2.3E-03 0 0
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
416 0 1 2.4E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness
393 34 1 2.5E-03 1 2.6E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
362 0 1 2.8E-03 0 0
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
344 0 1 2.9E-03 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
342 0 1 2.9E-03 0 0
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
330 0 1 3.0E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
312 0 1 3.2E-03 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
299 0 1 3.3E-03 0 0
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
281 0 1 3.6E-03 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
239 0 1 4.2E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
226 0 1 4.4E-03 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
175 0 1 5.7E-03 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
175 0 1 5.7E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
172 0 1 5.8E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
166 122 1 6.0E-03 1 7.9E-03