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: C0006430
Disease: Burning Mouth Syndrome
Burning Mouth Syndrome 		26 0 8 1.0E-01 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 7 9.7E-02 0 0
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		17 0 7 9.7E-02 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 9.7E-02 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		6 0 6 9.7E-02 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		6 0 6 9.7E-02 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		6 0 6 9.7E-02 0 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		6 0 6 9.7E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 9 9.6E-02 0 0
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		7 0 6 9.5E-02 0 0
CUI: C0276653
Disease: Invasive Pulmonary Aspergillosis
Invasive Pulmonary Aspergillosis 		42 0 9 9.5E-02 0 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		8 0 6 9.4E-02 0 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 6 9.4E-02 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 6 9.4E-02 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 6 9.2E-02 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 6 9.2E-02 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 6 9.2E-02 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 6 9.1E-02 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 6 9.0E-02 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 6 8.8E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 6 8.8E-02 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 6 8.8E-02 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 8 8.7E-02 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 6 8.7E-02 0 0
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		90 0 12 8.6E-02 0 0