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: C0239957
Disease: Hip stiff
Hip stiff 		1 0 1 1.00 0 0
CUI: C1608971
Disease: Optic nerve pallor
Optic nerve pallor 		1 0 1 1.00 0 0
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		1 0 1 1.00 0 0
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome 		1 0 1 1.00 0 0
CUI: C4022768
Disease: Cerebellar gliosis
Cerebellar gliosis 		1 1 1 1.00 1 1.00
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		2 0 1 0.50 0 0
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		2 0 1 0.50 0 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		3 3 1 0.33 1 0.33
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain 		3 38 1 0.33 1 2.6E-02
CUI: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		3 2 1 0.33 1 0.50
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		4 1 1 0.25 1 1.00
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		4 2 1 0.25 1 0.50
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid 		5 0 1 0.20 0 0
CUI: C1868251
Disease: Neonatal alloimmune thrombocytopenia (NAIT)
Neonatal alloimmune thrombocytopenia (NAIT) 		6 0 1 0.17 0 0
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		6 0 1 0.17 0 0
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		6 4 1 0.17 1 0.25
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		7 0 1 0.14 0 0
CUI: C0152237
Disease: Talipes Calcaneovalgus
Talipes Calcaneovalgus 		9 0 1 0.11 0 0
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		9 0 1 0.11 0 0
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		9 0 1 0.11 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		9 7 1 0.11 1 0.14
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		10 0 1 1.0E-01 0 0
CUI: C0270500
Disease: Coprophilia (disorder)
Coprophilia (disorder) 		12 0 1 8.3E-02 0 0
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		13 0 1 7.7E-02 0 0
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		13 0 1 7.7E-02 0 0