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: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		2 2 1 0.50 2 1.00
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 2 1 0.50 2 1.00
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		1 2 1 1.00 2 1.00
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 0.33 2 0.50
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 1 1.8E-02 2 0.40
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		7 5 1 0.14 2 0.40
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 1 0.25 2 0.40
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		14 6 1 7.1E-02 1 0.14
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 1 9.1E-02 2 0.25
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		11 8 1 9.1E-02 2 0.25
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 1 1.4E-02 2 0.20
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		8 11 1 0.12 2 0.18
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 1 5.0E-02 2 0.18
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 1 5.8E-03 2 0.17
CUI: C1843108
Disease: Short palm
Short palm 		110 13 1 9.1E-03 2 0.15
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 1 9.6E-03 2 0.15
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 15 1 1.1E-02 2 0.13
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 1 1.4E-02 2 0.12
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 1 7.8E-03 2 9.5E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 1 9.0E-03 2 8.7E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 1 5.5E-03 2 8.0E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.5E-02 2 7.4E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 1 9.3E-03 2 6.5E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 1 4.8E-03 2 6.2E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 1 5.2E-03 2 6.1E-02