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: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 30 0.11 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 39 0.11 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 35 0.10 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 105 0.10 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 23 43 0.10 1 9.5E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 52 0.10 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 80 0.10 0 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		237 0 47 0.10 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 37 0.10 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 30 1.0E-01 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		179 61 40 9.7E-02 3 2.1E-02
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 35 9.7E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 78 9.6E-02 11 3.1E-02
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 28 9.6E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 40 9.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 112 9.6E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 26 9.4E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 51 9.4E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 64 9.4E-02 1 8.4E-03
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		88 0 31 9.4E-02 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 112 9.3E-02 1 9.7E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 0 98 9.3E-02 0 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		81 0 30 9.2E-02 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 42 75 9.2E-02 1 8.1E-03
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 43 9.2E-02 0 0