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: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 15 18 9.9E-02 3 0.12
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 12 9.9E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 35 9.8E-02 1 2.4E-02
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 16 9.8E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 34 9.7E-02 2 7.4E-02
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 9.6E-02 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 9.6E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 34 9.6E-02 3 6.1E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 20 9.6E-02 1 5.0E-02
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 3 10 9.5E-02 2 0.14
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 27 17 9.5E-02 5 0.14
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 19 9.5E-02 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 1 12 9.4E-02 1 7.7E-02
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 4 10 9.4E-02 2 0.13
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 18 9.4E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 27 9.4E-02 4 9.5E-03
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 12 9.2E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 13 9.2E-02 4 6.0E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 19 9.2E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 24 9.0E-02 1 3.1E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 18 9.0E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 44 9.0E-02 3 7.7E-02
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 14 15 9.0E-02 3 0.12
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 20 9.0E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 12 9.0E-02 0 0