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: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 4 14 0.18 1 0.11
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		5 0 4 0.12 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 5 0.11 0 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		23 0 5 0.10 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 0 9 1.0E-01 0 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		3 0 3 9.7E-02 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 1 3 9.4E-02 1 0.17
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 0 3 8.8E-02 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 3 8.8E-02 0 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 0 4 8.7E-02 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		10 1 3 7.9E-02 1 0.17
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 2 3 7.7E-02 1 0.14
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 8 7.4E-02 0 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		13 0 3 7.3E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 9 7.1E-02 1 6.7E-02
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 3 6.8E-02 0 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		33 0 4 6.7E-02 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		49 19 5 6.7E-02 1 4.2E-02
CUI: C0014390
Disease: Entropion
Entropion 		18 0 3 6.5E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 4 6.5E-02 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		2 0 2 6.5E-02 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 1 4 6.5E-02 1 0.17
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		2 0 2 6.5E-02 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		2 0 2 6.5E-02 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		2 0 2 6.5E-02 0 0