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: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 4 0.33 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 4 0.31 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 3 0.25 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 4 0.25 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 2 0.22 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 2 0.22 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 2 0.20 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 0 3 0.20 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 3 0.19 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 4 0.18 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 4 0.18 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 4 0.18 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 4 0.17 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 0 4 0.17 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 4 0.17 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 2 0.17 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 2 0.17 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 2 0.17 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 2 0.17 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 2 0.15 0 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		15 0 3 0.15 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 4 0.14 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 2 0.14 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 2 0.14 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 4 0.14 0 0