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: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 0.18 0 0
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		2 12 2 0.18 1 6.7E-02
CUI: C4749378
Disease: Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 6 		2 0 2 0.18 0 0
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		4 0 2 0.15 0 0
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 0 2 0.15 0 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 15 2 0.14 1 5.6E-02
CUI: C1306893
Disease: Anomaly of placenta
Anomaly of placenta 		5 0 2 0.14 0 0
CUI: C4025043
Disease: Abnormality of the pancreatic islet cells
Abnormality of the pancreatic islet cells 		6 0 2 0.13 0 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		9 0 2 0.11 0 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 3 0.11 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 2 0.11 0 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 0 2 0.11 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 2 0.11 0 0
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		11 0 2 1.0E-01 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 2 1.0E-01 0 0
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		11 0 2 1.0E-01 0 0
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		12 0 2 9.5E-02 0 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		12 0 2 9.5E-02 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 2 9.5E-02 0 0
CUI: C0796046
Disease: Gurrieri Sammito Bellussi syndrome
Gurrieri Sammito Bellussi syndrome 		1 0 1 9.1E-02 0 0
CUI: C1517445
Disease: Ganglioneuroblastoma, Nodular
Ganglioneuroblastoma, Nodular 		1 0 1 9.1E-02 0 0
CUI: C1856911
Disease: Ivory epiphyses
Ivory epiphyses 		1 0 1 9.1E-02 0 0
CUI: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch 		1 0 1 9.1E-02 0 0
CUI: C1859462
Disease: Absent knee epiphyses
Absent knee epiphyses 		1 0 1 9.1E-02 0 0
CUI: C1859478
Disease: Hypoplasia of proximal fibula
Hypoplasia of proximal fibula 		1 0 1 9.1E-02 0 0