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: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		23 3 5 4.8E-02 2 0.17
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		1 3 1 1.2E-02 2 0.17
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb 		11 5 2 2.1E-02 2 0.14
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		42 5 10 8.5E-02 2 0.14
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 28 0.14 3 0.14
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 22 0.16 3 0.12
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 19 24 0.15 3 0.11
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 12 8.2E-02 2 0.11
CUI: C1853638
Disease: Broad neck
Broad neck 		22 10 7 6.9E-02 2 0.11
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		18 1 4 4.0E-02 1 9.1E-02
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		7 1 1 1.1E-02 1 9.1E-02
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		3 1 1 1.1E-02 1 9.1E-02
CUI: C0302845
Disease: MCV - raised
MCV - raised 		12 1 2 2.1E-02 1 9.1E-02
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		14 1 1 1.0E-02 1 9.1E-02
CUI: C0426816
Disease: Absence of rib
Absence of rib 		18 1 4 4.0E-02 1 9.1E-02
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		23 1 2 1.9E-02 1 9.1E-02
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		2 1 1 1.1E-02 1 9.1E-02
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 1.2E-02 1 9.1E-02
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		11 1 2 2.1E-02 1 9.1E-02
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		6 1 1 1.1E-02 1 9.1E-02
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 1.2E-02 1 9.1E-02
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		5 1 1 1.1E-02 1 9.1E-02
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 1 2 1.7E-02 1 9.1E-02
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		4 1 2 2.3E-02 1 9.1E-02
CUI: C1857025
Disease: Progressive congenital scoliosis
Progressive congenital scoliosis 		4 1 1 1.1E-02 1 9.1E-02