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: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 8.8E-04 0 0
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		30 0 1 8.8E-04 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 8.8E-04 0 0
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		29 0 1 8.8E-04 0 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		29 0 1 8.8E-04 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 1 8.8E-04 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 1 8.8E-04 0 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		29 0 1 8.8E-04 0 0
CUI: C0267971
Disease: Storage disease
Storage disease 		28 0 1 8.8E-04 0 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		28 0 1 8.8E-04 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 0 1 8.8E-04 0 0
CUI: C0040261
Disease: Onychomycosis
Onychomycosis 		27 0 1 8.8E-04 0 0
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		27 0 1 8.8E-04 0 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		27 0 1 8.8E-04 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 1 8.8E-04 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 1 8.8E-04 0 0
CUI: C0426807
Disease: Short clavicle
Short clavicle 		26 0 1 8.8E-04 0 0
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		26 0 1 8.8E-04 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		26 0 1 8.8E-04 0 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		26 0 1 8.8E-04 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 1 8.8E-04 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		25 0 1 8.8E-04 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 1 8.8E-04 0 0
CUI: C2350019
Disease: Solitary Pulmonary Nodule
Solitary Pulmonary Nodule 		25 0 1 8.8E-04 0 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		24 0 1 8.8E-04 0 0