Source: INFERRED ×
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: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1 13 1 0.50 5 0.29
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		1 6 1 0.50 3 0.25
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		1 0 1 0.50 0 0
CUI: C2826055
Disease: Mixed phenotype acute leukemia T/myeloid
Mixed phenotype acute leukemia T/myeloid 		1 0 1 0.50 0 0
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		1 0 1 0.50 0 0
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		1 0 1 0.50 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		2 0 1 0.33 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 2 0.33 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 2 0.33 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 2 0.33 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 2 0.33 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 2 0.29 0 0
CUI: C0263485
Disease: Clastothrix
Clastothrix 		8 0 2 0.25 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 2 0.25 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 2 0.25 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 2 0.22 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 2 0.22 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 2 0.20 0 0
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		11 0 2 0.18 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 2 0.18 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		5 0 1 0.17 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 2 0.17 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 2 0.17 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 2 0.17 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 2 0.15 0 0