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: C1851443
Disease: Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 3 		2 0 2 1.00 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 1 0.25 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 1 0.25 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 0 2 0.20 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 1 0.12 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 1 0.11 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 1 0.11 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		19 0 2 0.11 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 31 2 1.0E-01 1 3.0E-02
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 1 1.0E-01 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 1 7.7E-02 0 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		15 0 1 6.2E-02 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 1 5.3E-02 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 1 5.3E-02 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 1 5.3E-02 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 1 4.8E-02 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 1 4.8E-02 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 1 4.0E-02 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 1 3.8E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 2.9E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 2.9E-02 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 0 1 2.5E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 1 2.4E-02 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 1 2.3E-02 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 1 2.2E-02 0 0