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: C0220765
Disease: Weaver-Like Syndrome
Weaver-Like Syndrome 		3 0 3 0.60 0 0
CUI: C0423823
Disease: Thin nails
Thin nails 		10 0 5 0.50 0 0
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		8 0 4 0.44 0 0
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
COHEN-GIBSON SYNDROME 		2 0 2 0.40 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 4 0.27 0 0
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		5 0 2 0.25 0 0
CUI: C0153470
Disease: Malignant neoplasm of spleen
Malignant neoplasm of spleen 		1 0 1 0.20 0 0
CUI: C0343079
Disease: Milia, Multiple Eruptive
Milia, Multiple Eruptive 		1 0 1 0.20 0 0
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		1 0 1 0.20 0 0
CUI: C0749794
Disease: Upper Extremity Deformities, Congenital
Upper Extremity Deformities, Congenital 		1 0 1 0.20 0 0
CUI: C0751679
Disease: Ganglioglioma, Intracranial
Ganglioglioma, Intracranial 		1 0 1 0.20 0 0
CUI: C1866246
Disease: Sparse anterior scalp hair
Sparse anterior scalp hair 		1 0 1 0.20 0 0
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		1 0 1 0.20 0 0
CUI: C3277679
Disease: EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC 		1 0 1 0.20 0 0
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort 		1 0 1 0.20 0 0
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE 		1 0 1 0.20 0 0
CUI: C4020918
Disease: Dysharmonic bone age
Dysharmonic bone age 		1 0 1 0.20 0 0
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC 		1 0 1 0.20 0 0
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC 		1 0 1 0.20 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome 		1 0 1 0.20 0 0
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		1 0 1 0.20 0 0
CUI: C0152236
Disease: Talipes valgus
Talipes valgus 		2 0 1 0.17 0 0
CUI: C0332887
Disease: Congenital hypertrophy
Congenital hypertrophy 		2 0 1 0.17 0 0
CUI: C0334485
Disease: Endometrial stromal nodule
Endometrial stromal nodule 		2 0 1 0.17 0 0
CUI: C0343643
Disease: Facial wart
Facial wart 		2 0 1 0.17 0 0