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: C2826055
Disease: Mixed phenotype acute leukemia T/myeloid
Mixed phenotype acute leukemia T/myeloid 		2 0 1 0.50 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 1 0.33 0 0
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		3 0 1 0.33 0 0
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		3 0 1 0.33 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 13 1 0.25 3 0.19
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 58 1 0.14 2 3.2E-02
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 1 0.14 0 0
CUI: C0263485
Disease: Clastothrix
Clastothrix 		8 0 1 0.12 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: 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 0 1 1.0E-01 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 1 9.1E-02 0 0
CUI: C0278983
Disease: Non-small cell lung cancer stage IIIA
Non-small cell lung cancer stage IIIA 		12 0 1 8.3E-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