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: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 1 5.2E-03 2 6.1E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 1 5.5E-03 2 8.0E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 1 5.8E-03 2 0.17
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 2 8.1E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 1 6.4E-03 2 3.9E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 6.6E-03 0 0
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: C1843108
Disease: Short palm
Short palm 		110 13 1 9.1E-03 2 0.15
CUI: C0575802
Disease: Small hand
Small hand 		108 31 1 9.3E-03 2 6.5E-02
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: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 1 1.4E-02 2 0.20
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 1 1.4E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 1 1.4E-02 2 0.12
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		69 0 1 1.4E-02 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		61 0 1 1.6E-02 0 0
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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.5E-02 2 7.4E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 1 5.0E-02 2 0.18
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: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		8 11 1 0.12 2 0.18