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: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		3 10 2 4.1E-03 4 4.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 44 7.0E-02 4 3.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 52 5.0E-02 5 3.5E-02
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		2 3 2 4.1E-03 3 3.3E-02
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		79 4 28 5.2E-02 3 3.3E-02
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 22 4.5E-02 3 3.3E-02
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 21 4.3E-02 3 3.2E-02
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		47 10 12 2.3E-02 3 3.1E-02
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 24 4.5E-02 3 3.1E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 44 6.6E-02 3 3.0E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 24 4.2E-02 3 3.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 63 7.7E-02 4 3.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 76 6.7E-02 5 2.9E-02
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		820 55 92 7.6E-02 4 2.8E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 9 1.8E-02 3 2.7E-02
CUI: C0007097
Disease: Carcinoma
Carcinoma 		2462 103 214 7.8E-02 5 2.7E-02
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 43 6.6E-02 3 2.7E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 39 6.1E-02 4 2.6E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 29 4.1E-02 3 2.4E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 67 9.0E-02 3 2.3E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 45 20 3.2E-02 3 2.3E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 8 1.6E-02 3 2.3E-02
CUI: C0426874
Disease: Trident hand
Trident hand 		2 2 2 4.1E-03 2 2.2E-02
CUI: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome 		10 2 6 1.2E-02 2 2.2E-02
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 3 17 3.5E-02 2 2.2E-02