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: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		23 0 17 0.34 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.29 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 0.28 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 0.28 0 0
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		46 0 19 0.27 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 13 0.27 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 13 0.27 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 13 0.27 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 11 0.25 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		13 0 11 0.24 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 13 0.23 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 12 0.23 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 13 0.22 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 11 0.22 0 0
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		9 0 9 0.20 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 23 0.20 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 13 0.19 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 13 0.19 0 0
CUI: C0032209
Disease: Platybasia
Platybasia 		18 0 10 0.19 0 0
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		18 0 10 0.19 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 0.19 0 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		12 0 9 0.19 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		12 0 9 0.19 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 25 0.19 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 14 0.19 0 0