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: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 29 8.3E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 22 8.3E-02 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 25 8.2E-02 0 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		50 0 23 8.2E-02 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 23 8.1E-02 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 23 8.1E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 22 8.1E-02 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 22 8.1E-02 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 23 8.0E-02 0 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		271 0 39 8.0E-02 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 23 8.0E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 46 8.0E-02 1 6.7E-03
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 22 7.9E-02 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		183 91 32 7.9E-02 2 1.3E-02
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 22 7.8E-02 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 28 7.7E-02 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 23 7.7E-02 0 0
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		182 0 31 7.7E-02 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		394 173 46 7.6E-02 2 8.3E-03
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 23 7.6E-02 0 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 23 7.5E-02 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 22 7.5E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 24 7.5E-02 0 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 20 7.5E-02 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 22 7.5E-02 0 0