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: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		3 0 2 0.12 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 2 0.12 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 2 0.12 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		4 0 2 0.12 0 0
CUI: C1857645
Disease: Slender nose
Slender nose 		4 0 2 0.12 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 2 0.12 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		4 0 2 0.12 0 0
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 0 5 0.12 0 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		14 0 3 0.12 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 6 0.11 0 0
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		26 0 4 0.11 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		6 0 2 0.11 0 0
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 0 6 0.11 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 2 0.11 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 2 0.11 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 2 0.11 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 2 0.11 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 2 0.11 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 3 1.0E-01 0 0
CUI: C0231230
Disease: Fatigability
Fatigability 		29 0 4 1.0E-01 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 3 1.0E-01 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 2 1.0E-01 0 0
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma 		18 0 3 1.0E-01 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 2 9.5E-02 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 2 9.5E-02 0 0