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: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 11 0.79 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 11 0.73 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 1 11 0.73 1 1.0E-02
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		13 0 10 0.71 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 11 0.61 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 59 11 0.61 55 0.53
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 11 0.52 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		5 0 5 0.45 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 11 0.44 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 11 0.39 0 0
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		5 0 4 0.33 0 0
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 1 4 0.31 1 1.0E-02
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 11 0.31 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 11 0.31 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 7 0.29 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 11 0.28 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 3 0.27 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis 		3 0 3 0.27 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 38 11 0.27 7 5.4E-02
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 11 0.25 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 11 0.25 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 11 0.24 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 1 7 0.24 1 1.0E-02
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 11 0.21 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 11 0.19 0 0