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: C1970808
Disease: Xeroderma Pigmentosum B-Cockayne Syndrome
Xeroderma Pigmentosum B-Cockayne Syndrome 		1 0 1 1.00 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 1 0.25 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 1 0.25 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 1 0.17 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 1 0.17 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 1 0.17 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 1 0.17 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 0 1 0.14 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 1 0.14 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 1 0.12 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 1 0.12 0 0
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 1 0.12 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 1 0.12 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 1 0.11 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 1 0.11 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 0.11 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 1 1.0E-01 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		10 6 1 1.0E-01 1 0.17
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 1 9.1E-02 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 1 8.3E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 1 8.3E-02 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 1 8.3E-02 0 0
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		13 0 1 7.7E-02 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 1 7.7E-02 0 0
CUI: C0221261
Disease: Koilonychia
Koilonychia 		14 0 1 7.1E-02 0 0