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: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis 		6 0 6 0.38 0 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 5 0.24 0 0
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		5 0 4 0.24 0 0
CUI: C0151934
Disease: Hypogeusia
Hypogeusia 		6 0 4 0.22 0 0
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		8 0 4 0.20 0 0
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		8 0 4 0.20 0 0
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		8 0 4 0.20 0 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		8 0 4 0.20 0 0
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		4 0 3 0.18 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 0 3 0.18 0 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		11 0 4 0.17 0 0
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		19 0 5 0.17 0 0
CUI: C0860439
Disease: Mottled pigmentation
Mottled pigmentation 		5 0 3 0.17 0 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		14 0 4 0.15 0 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		15 0 4 0.15 0 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		25 0 5 0.14 0 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		17 0 4 0.14 0 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		18 0 4 0.13 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 3 0.13 0 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		28 0 5 0.13 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 3 0.12 0 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		2 0 2 0.12 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 3 0.12 0 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		11 0 3 0.12 0 0
CUI: C1857171
Disease: Episodic hyperhidrosis
Episodic hyperhidrosis 		20 0 4 0.12 0 0