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: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 1 2.7E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 2.5E-02 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 1 2.5E-02 0 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		44 0 1 2.3E-02 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 1 2.2E-02 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		49 0 1 2.0E-02 0 0
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		49 0 1 2.0E-02 0 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		50 0 1 2.0E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 1 2.0E-02 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 1 1.9E-02 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 1 1.8E-02 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 1 1.8E-02 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 1 1.6E-02 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 1 1.6E-02 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 1 1.6E-02 0 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		68 0 1 1.5E-02 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 1 1.4E-02 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 1 1.4E-02 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 1 1.4E-02 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 2117 1 1.4E-02 13 6.0E-03
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 0 1 1.3E-02 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 1 1.3E-02 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 1 1.3E-02 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 1 1.2E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 1 1.1E-02 43 6.7E-03