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: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 20 0.11 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 12 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 25 0.11 3 8.1E-02
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 14 15 0.10 5 0.19
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 12 1.0E-01 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 11 1.0E-01 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 10 9.8E-02 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 10 9.7E-02 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 14 9.7E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 11 9.6E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 23 9.5E-02 1 2.4E-02
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		56 0 12 9.4E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 17 9.3E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 19 9.3E-02 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 0 10 9.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 31 9.2E-02 2 3.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 43 9.2E-02 3 7.0E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 14 9.0E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 11 9.0E-02 7 0.10
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 10 9.0E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 30 9.0E-02 2 6.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 24 8.9E-02 5 1.2E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		239 31 26 8.8E-02 1 2.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 41 8.8E-02 1 1.8E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 27 14 8.7E-02 4 1.0E-01