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: C0266483
Disease: Pachygyria
Pachygyria 		129 0 52 0.23 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 37 0.23 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 45 0.19 1 4.0E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 56 0.18 1 5.0E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 32 0.17 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 26 0.16 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 25 0.16 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 25 0.16 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 24 0.15 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 29 0.15 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 28 0.15 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 23 0.15 0 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		22 0 22 0.15 0 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		22 0 22 0.15 0 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		22 0 22 0.15 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 22 0.15 0 0
CUI: C0342526
Disease: Absent testes
Absent testes 		24 0 22 0.15 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 71 0.15 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 72 0.14 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 22 0.14 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 22 0.14 0 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		30 0 22 0.14 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 25 0.14 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 23 0.14 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 22 0.14 0 0