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: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		3 0 3 0.30 0 0
CUI: C4023052
Disease: Ubiquitin-positive cerebral inclusion bodies
Ubiquitin-positive cerebral inclusion bodies 		3 0 3 0.30 0 0
CUI: C0006281
Disease: Congenital bronchogenic cyst
Congenital bronchogenic cyst 		4 0 3 0.27 0 0
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		4 0 3 0.27 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		8 0 3 0.20 0 0
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis 		3 0 2 0.18 0 0
CUI: C0178421
Disease: Fibroadenoma of breast
Fibroadenoma of breast 		11 0 3 0.17 0 0
CUI: C1403996
Disease: Squamous cell metaplasia
Squamous cell metaplasia 		4 0 2 0.17 0 0
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma 		4 0 2 0.17 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		4 0 2 0.17 0 0
CUI: C1859896
Disease: Progressive macrocephaly
Progressive macrocephaly 		5 0 2 0.15 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 2 0.15 0 0
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		7 0 2 0.13 0 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		7 0 2 0.13 0 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		16 0 3 0.13 0 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		8 0 2 0.12 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 3 0.12 0 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 0 3 0.12 0 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		8 0 2 0.12 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 3 0.12 0 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		18 0 3 0.12 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 2 0.12 0 0
CUI: C4022024
Disease: Upper limb asymmetry
Upper limb asymmetry 		9 0 2 0.12 0 0
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression 		19 0 3 0.12 0 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		10 0 2 0.11 0 0