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 13 0.11 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 13 0.11 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 20 0.11 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 23 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 33 0.11 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 14 0.11 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 52 0.11 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 16 0.11 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 30 0.11 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 13 0.11 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 15 0.10 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 14 0.10 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 16 0.10 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 23 0.10 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 18 0.10 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 19 0.10 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 41 0.10 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 19 1.0E-01 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 18 9.9E-02 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 12 9.8E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 15 9.8E-02 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 14 9.8E-02 0 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 11 9.7E-02 0 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		23 0 12 9.7E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 23 9.7E-02 0 0