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: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 9 0.25 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 0 10 0.23 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 6 8 0.23 5 0.31
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 6 0.18 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 6 0.18 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 6 0.18 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 6 0.18 0 0
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		13 8 7 0.18 1 4.5E-02
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 6 0.18 0 0
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 0 12 0.17 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 6 0.17 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 6 0.17 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 6 0.17 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 6 0.17 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 6 0.16 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 6 0.16 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 6 0.15 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 6 0.15 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		20 0 7 0.15 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 6 0.15 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		137 35 22 0.15 1 2.0E-02
CUI: C0221261
Disease: Koilonychia
Koilonychia 		14 0 6 0.15 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 6 0.15 0 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		85 0 15 0.15 0 0
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		70 111 13 0.14 7 5.9E-02