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: C0239272
Disease: Elbow stiff
Elbow stiff 		3 0 1 0.12 0 0
CUI: C0474809
Disease: Endometrioid tumor
Endometrioid tumor 		3 0 1 0.12 0 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs 		3 0 1 0.12 0 0
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		3 0 1 0.12 0 0
CUI: C4289955
Disease: Atypical Endometriosis
Atypical Endometriosis 		3 0 1 0.12 0 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite 		13 0 2 0.12 0 0
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		13 0 2 0.12 0 0
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		4 0 1 0.11 0 0
CUI: C1268964
Disease: Myelodysplastic syndrome, no ICD-O subtype
Myelodysplastic syndrome, no ICD-O subtype 		4 0 1 0.11 0 0
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		4 0 1 0.11 0 0
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		4 0 1 0.11 0 0
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		5 0 1 1.0E-01 0 0
CUI: C0948740
Disease: Hypoplasia of the pituitary gland
Hypoplasia of the pituitary gland 		5 0 1 1.0E-01 0 0
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		5 0 1 1.0E-01 0 0
CUI: C3806179
Disease: Spotty hyperpigmentation
Spotty hyperpigmentation 		5 0 1 1.0E-01 0 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		6 0 1 9.1E-02 0 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 1 9.1E-02 0 0
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		6 61 1 9.1E-02 1 1.6E-02
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		6 0 1 9.1E-02 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 2 8.7E-02 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		19 0 2 8.7E-02 0 0
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		7 0 1 8.3E-02 0 0
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		20 0 2 8.3E-02 0 0
CUI: C0038165
Disease: Staphylococcal Scalded Skin Syndrome
Staphylococcal Scalded Skin Syndrome 		7 0 1 8.3E-02 0 0
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		7 0 1 8.3E-02 0 0