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: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 31 14 0.26 1 1.2E-02
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		70 111 19 0.19 7 4.4E-02
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 0 9 0.18 0 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		85 0 20 0.18 0 0
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 0 12 0.17 0 0
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		13 0 9 0.17 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		137 35 24 0.15 5 5.9E-02
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 8 0.13 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 7 0.13 0 0
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		34 0 9 0.12 0 0
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		80 0 14 0.12 0 0
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		8 0 6 0.12 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 6 0.12 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 7 0.12 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 7 0.11 0 0
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		69 82 12 0.11 5 3.8E-02
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		34 0 8 0.11 0 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		15 0 6 0.11 0 0
CUI: C0878555
Disease: Diffuse panbronchiolitis
Diffuse panbronchiolitis 		26 0 7 0.10 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 6 1.0E-01 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 6 1.0E-01 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 5 9.6E-02 0 0
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		24 0 6 9.1E-02 0 0
CUI: C0023486
Disease: Prolymphocytic Leukemia
Prolymphocytic Leukemia 		37 0 7 9.0E-02 0 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		25 0 6 9.0E-02 0 0