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: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 11 0.12 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 9 0.12 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 7 0.12 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 8 0.11 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 16 0.11 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 0.11 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 23 0.11 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 23 0.11 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 12 0.11 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 8 0.11 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 10 0.11 0 0
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		111 0 16 0.10 0 0
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		58 0 11 0.10 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 11 0.10 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 7 1.0E-01 0 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		73 0 12 1.0E-01 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 7 1.0E-01 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 7 1.0E-01 0 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		151 0 19 9.9E-02 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 15 9.6E-02 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 7 9.5E-02 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 0 12 9.4E-02 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 7 9.1E-02 0 0
CUI: C0423757
Disease: Thin skin
Thin skin 		77 0 11 8.8E-02 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 24 8.8E-02 0 0