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: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		88 1 29 0.32 1 1.00
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 7 0.20 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 6 0.19 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 6 0.19 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 6 0.19 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 6 0.19 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 6 0.18 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 6 0.18 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 6 0.18 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: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		16 0 7 0.17 0 0
CUI: C0034642
Disease: Rales
Rales 		23 0 8 0.17 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 0.16 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 6 0.16 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 6 0.16 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 6 0.15 0 0
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: C0423820
Disease: Ridged nails
Ridged nails 		22 0 7 0.15 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 6 0.14 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 6 0.14 0 0
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		9 0 5 0.14 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		20 0 6 0.13 0 0