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: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		8 0 6 0.22 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 7 0.19 0 0
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		4 0 4 0.16 0 0
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		4 0 4 0.16 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 4 0.14 0 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity 		15 0 5 0.14 0 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		16 0 5 0.14 0 0
CUI: C0427543
Disease: Increased blood monocyte number
Increased blood monocyte number 		8 0 4 0.14 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 4 0.13 0 0
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		20 0 5 0.12 0 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		11 0 4 0.12 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 4 0.12 0 0
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		11 0 4 0.12 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 5 0.12 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 5 0.12 0 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		23 0 5 0.12 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 6 0.12 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 0.12 0 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		4 0 3 0.12 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		14 0 4 0.11 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 3 0.11 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 4 0.11 0 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		16 0 4 0.11 0 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		16 0 4 0.11 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 3 0.11 0 0