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: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 18 0.21 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 18 0.18 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 17 0.17 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 15 0.16 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 20 0.16 0 0
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 15 0.15 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 12 0.14 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 30 0.13 0 0
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		10 0 10 0.13 0 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		10 0 10 0.13 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 26 0.13 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 21 0.13 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 0 10 0.13 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 0 10 0.13 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 25 0.13 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		23 0 11 0.12 0 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		15 0 10 0.12 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		53 0 14 0.12 0 0
CUI: C0751466
Disease: Phonophobia
Phonophobia 		18 0 10 0.12 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 15 0.12 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 17 0.11 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 11 0.11 0 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 0 12 0.11 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 21 0.11 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 12 0.11 0 0