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: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		39 15 2 5.1E-02 1 6.7E-02
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 1 5.0E-02 0 0
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		20 0 1 4.8E-02 0 0
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		20 30 1 4.8E-02 1 3.3E-02
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 1 4.8E-02 0 0
CUI: C0016048
Disease: Fibromatosis
Fibromatosis 		22 0 1 4.3E-02 0 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 4.3E-02 1 3.7E-02
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 1 4.2E-02 0 0
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		23 0 1 4.2E-02 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 1 4.0E-02 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 1 4.0E-02 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 1 4.0E-02 0 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		25 0 1 3.8E-02 0 0
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		26 0 1 3.7E-02 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 1 3.3E-02 0 0
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis 		29 0 1 3.3E-02 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 1 3.3E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 11 1 3.2E-02 1 9.1E-02
CUI: C0016045
Disease: fibroma
fibroma 		30 0 1 3.2E-02 0 0
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		30 0 1 3.2E-02 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		30 0 1 3.2E-02 0 0
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		31 0 1 3.1E-02 0 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		31 0 1 3.1E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 1 3.1E-02 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		35 0 1 2.8E-02 0 0