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: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 6 1.00 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 6 1.00 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 6 1.00 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 6 0.86 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 6 0.75 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 6 0.75 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 6 0.67 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 4 0.67 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 6 0.67 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 6 0.60 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 6 0.55 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 6 0.50 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 6 0.50 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 6 0.50 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 6 0.46 0 0
CUI: C0221261
Disease: Koilonychia
Koilonychia 		14 0 6 0.43 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 6 0.43 0 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		16 0 6 0.38 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 6 0.35 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 6 0.35 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		20 0 6 0.30 0 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 0 6 0.29 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 6 0.27 0 0
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		23 0 6 0.26 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 0 3 0.23 0 0