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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 1 5.9E-04 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 1 5.9E-04 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 5.9E-04 0 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 1 5.9E-04 0 0
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		32 478 1 5.9E-04 1 9.4E-04
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		31 0 1 5.9E-04 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 5.9E-04 0 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		30 0 1 5.9E-04 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 5.9E-04 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 5.9E-04 0 0
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		30 0 1 5.9E-04 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 1 5.9E-04 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 1 5.9E-04 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 1 5.9E-04 0 0
CUI: C3158111
Disease: response to SSRI
response to SSRI 		28 0 1 5.9E-04 0 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 1 5.9E-04 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 1 5.9E-04 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 1 5.9E-04 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 1 5.9E-04 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 1 6.0E-04 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 1 6.0E-04 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 1 6.0E-04 0 0
CUI: C1853638
Disease: Broad neck
Broad neck 		22 0 1 6.0E-04 0 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		22 0 1 6.0E-04 0 0
CUI: C0036454
Disease: Scotoma
Scotoma 		21 0 1 6.0E-04 0 0