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 7 0.15 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 8 0.14 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 0.14 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 8 0.13 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 8 0.13 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 7 0.12 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 7 0.12 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 7 0.12 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 7 0.12 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 9 0.11 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 10 9.7E-02 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 7 8.4E-02 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 0 5 8.3E-02 0 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 0 5 8.2E-02 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 4 8.2E-02 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 4 8.0E-02 0 0
CUI: C0013592
Disease: Ectropion
Ectropion 		50 0 7 8.0E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 10 7.7E-02 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 0 7 7.5E-02 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 7 7.4E-02 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 0 7 7.2E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 31 7.0E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 12 6.9E-02 0 0
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 0 6 6.9E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 5 6.8E-02 0 0