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: C0011334
Disease: Dental caries
Dental caries 		330 126 6 1.7E-02 1 7.9E-03
CUI: C0002871
Disease: Anemia
Anemia 		847 94 6 6.9E-03 1 1.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 4 7.8E-03 1 1.5E-02
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 46 1 3.6E-02 1 2.1E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 6 1.7E-02 1 2.3E-02
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 33 2 4.9E-02 1 2.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 2 8.5E-03 1 3.8E-02
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 19 7 1.9E-02 1 5.0E-02
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		58 19 1 1.2E-02 1 5.0E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 3 9.8E-03 1 5.9E-02
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		253 15 7 2.6E-02 1 6.2E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 1 6.3E-03 1 7.1E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 2 1.2E-02 1 8.3E-02
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 9 5 4.9E-02 1 1.0E-01
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 1 8.1E-03 1 0.11
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 8 1 2.4E-02 1 0.11
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		39 6 2 3.2E-02 1 0.14
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		144 6 4 2.4E-02 1 0.14
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 5 4 4.7E-02 1 0.17
CUI: C0263498
Disease: Premature canities
Premature canities 		33 4 4 7.3E-02 1 0.20
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		11 4 1 2.8E-02 1 0.20
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		3 1 1 3.6E-02 1 0.50
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.5E-02 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 5 4.5E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 2 7.3E-03 0 0