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: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 22 0.19 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 42 0.18 3 0.14
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.17 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 0.17 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 0.17 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 17 0.17 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 13 0.16 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 13 0.16 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 15 0.15 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 13 0.15 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 11 0.15 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 5 24 0.15 1 7.7E-02
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 13 0.14 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 13 0.14 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		13 0 11 0.14 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 12 0.14 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 16 0.14 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 13 0.13 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 13 0.13 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 15 0.13 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 0 13 0.13 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 13 0.12 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 28 0.12 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 20 14 0.12 1 3.6E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 13 0.12 0 0