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: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 11 70 0.30 3 0.15
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 52 0.21 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 73 0.19 1 2.0E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 57 0.19 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 62 0.18 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 60 0.18 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 40 0.18 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 0 34 0.18 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 32 0.17 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 41 0.17 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 67 0.17 3 7.9E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 45 0.17 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 2 35 0.17 1 7.7E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 38 0.17 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 38 0.16 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 33 0.16 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 67 0.16 1 1.9E-02
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 27 0.16 0 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		44 0 29 0.16 0 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		137 0 41 0.15 0 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		50 0 29 0.15 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 37 0.15 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 62 0.14 0 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 0 29 0.14 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 42 0.14 0 0