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: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 23 0.19 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 22 0.19 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 23 0.19 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 0 36 0.19 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 23 0.19 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 17 0.18 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 23 0.18 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 24 0.18 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.17 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 22 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: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 22 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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 23 0.16 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 27 0.16 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 28 0.15 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 13 0.15 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 18 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: 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: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 23 0.14 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 12 0.14 0 0