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: C1857953
Disease: Deep plantar creases
Deep plantar creases 		19 6 13 0.45 3 0.27
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 7 0.26 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 7 0.26 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 6 0.20 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 3 7 0.20 1 1.0E-01
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 7 0.18 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 7 0.18 2 2.2E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 7 0.17 1 7.1E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 0 5 0.17 0 0
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 7 0.17 1 6.3E-03
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.17 0 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		42 0 9 0.16 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 7 0.16 1 1.1E-02
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		7 0 4 0.15 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 6 0.14 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 3 7 0.13 1 1.0E-01
CUI: C1861873
Disease: Multiple plantar creases
Multiple plantar creases 		3 1 3 0.13 1 0.12
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 8 0.13 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 2 8 0.13 1 0.11
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases 		4 2 3 0.12 1 0.11
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		13 0 4 0.12 0 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		14 0 4 0.12 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 3 0.12 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.12 0 0
CUI: C4072828
Disease: Sudden loss of visual acuity
Sudden loss of visual acuity 		5 0 3 0.12 0 0