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: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		0 31 0 0 2 2.5E-02
CUI: C0341479
Disease: Infected pancreatic necrosis
Infected pancreatic necrosis 		0 2 0 0 2 3.9E-02
CUI: C0399496
Disease: Granulomatosis, Orofacial
Granulomatosis, Orofacial 		0 3 0 0 1 1.9E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 1.7E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.7E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 1.7E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 1.8E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.8E-03 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		129 0 1 1.8E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 1.8E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 1.8E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 1.8E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 1.8E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 1.9E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.9E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 1.9E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.9E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 1.9E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 1.9E-03 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 1 1.9E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.9E-03 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 1 1.9E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 1.9E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 1.9E-03 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 7 1 1.9E-03 1 1.8E-02