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: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		106 33 106 0.32 33 0.26
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 47 0.12 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 52 0.11 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 52 0.11 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 57 0.11 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 53 0.11 1 5.8E-03
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 41 0.11 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 124 106 9.6E-02 1 4.0E-03
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 38 9.5E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 54 9.5E-02 1 7.2E-03
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		165 0 41 9.0E-02 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 33 8.9E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 110 8.9E-02 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 6 39 8.8E-02 1 7.6E-03
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 9 33 8.7E-02 1 7.5E-03
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 34 8.5E-02 0 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 64 8.5E-02 2 9.3E-03
CUI: C0031099
Disease: Periodontitis
Periodontitis 		682 116 79 8.5E-02 6 2.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 113 8.4E-02 1 2.4E-03
CUI: C0002871
Disease: Anemia
Anemia 		847 94 91 8.4E-02 1 4.6E-03
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 34 8.3E-02 0 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		100 0 33 8.3E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 31 8.3E-02 0 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		82 0 31 8.1E-02 0 0
CUI: C0702166
Disease: Acne
Acne 		167 0 37 8.0E-02 0 0