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: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 10 0.30 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 13 0.27 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 8 0.25 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 9 0.24 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 99 7 0.24 1 1.0E-02
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 59 8 0.23 1 1.7E-02
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		13 0 7 0.23 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 7 0.22 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 1 7 0.21 1 1.00
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		41 38 11 0.20 1 2.6E-02
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 1 5 0.19 1 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 7 0.16 0 0
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		5 0 4 0.15 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 7 0.15 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 7 0.13 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 0 5 0.12 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 7 0.12 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis 		3 0 3 0.12 0 0
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		4 0 3 0.12 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 7 0.11 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 7 0.11 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 3 0.11 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 7 0.11 0 0
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		5 0 3 0.11 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 7 9.9E-02 0 0