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: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 0 10 0.50 0 0
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		13 0 8 0.32 0 0
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 55 14 0.26 1 1.2E-02
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 0 10 0.23 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 6 0.23 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 5 0.22 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 5 0.21 0 0
CUI: C0014390
Disease: Entropion
Entropion 		18 0 6 0.19 0 0
CUI: C0878555
Disease: Diffuse panbronchiolitis
Diffuse panbronchiolitis 		26 0 7 0.18 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 6 0.18 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 4 0.17 0 0
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		70 111 13 0.17 3 2.2E-02
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		8 31 4 0.17 3 5.1E-02
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 4 0.17 0 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 5 0.15 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 5 0.15 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 3 0.15 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 3 0.15 0 0
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		34 0 7 0.15 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 4 0.15 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 5 0.14 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 3 0.14 0 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		85 11 13 0.14 1 2.4E-02
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 3 0.13 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 3 0.13 0 0