Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 1 1.7E-04 0 0
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy
14 0 1 1.7E-04 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 1 1.7E-04 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea
13 0 1 1.7E-04 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome
13 0 1 1.7E-04 0 0
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
12 0 1 1.7E-04 0 0
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset
12 0 1 1.7E-04 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures
12 0 1 1.7E-04 0 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
12 0 1 1.7E-04 0 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
12 0 1 1.7E-04 0 0
Night blindness, congenital stationary, type 1
12 0 1 1.7E-04 0 0
CUI: C4280747
Disease: Choking episodes
Choking episodes
12 0 1 1.7E-04 0 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy
11 0 1 1.7E-04 0 0
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement
11 0 1 1.7E-04 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome
11 0 1 1.7E-04 0 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw
11 0 1 1.7E-04 0 0
EMG: impaired neuromuscular transmission
11 0 1 1.7E-04 0 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
11 0 1 1.7E-04 0 0
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
11 0 1 1.7E-04 0 0
CUI: C0025265
Disease: Memory, Short-Term
Memory, Short-Term
10 0 1 1.7E-04 0 0
CUI: C1696701
Disease: Skin-picking
Skin-picking
10 0 1 1.7E-04 0 0
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness
10 0 1 1.7E-04 0 0
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
10 0 1 1.7E-04 0 0
Spastic paraplegia 4, autosomal dominant
10 0 1 1.7E-04 0 0
Respiratory insufficiency due to defective ciliary clearance
10 0 1 1.7E-04 0 0