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: C0553576
Disease: Systemic mycosis
Systemic mycosis 		4 0 1 7.7E-02 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 0 1 7.7E-02 0 0
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases 		4 0 1 7.7E-02 0 0
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		4 0 1 7.7E-02 0 0
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		4 0 1 7.7E-02 0 0
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 0 1 7.7E-02 0 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 0 1 7.1E-02 0 0
CUI: C0852996
Disease: Progressive cerebellar degeneration
Progressive cerebellar degeneration 		5 0 1 7.1E-02 0 0
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		5 0 1 7.1E-02 0 0
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		5 0 1 7.1E-02 0 0
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		5 0 1 7.1E-02 0 0
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
Pontocerebellar Hypoplasia Type 6 		5 0 1 7.1E-02 0 0
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		21 0 2 6.9E-02 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 1 6.7E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 1 6.7E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 1 6.7E-02 0 0
CUI: C1856117
Disease: Uplifted earlobe
Uplifted earlobe 		6 0 1 6.7E-02 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 1 6.7E-02 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 1 6.7E-02 0 0
CUI: C0742078
Disease: Mass lesion of brain
Mass lesion of brain 		7 0 1 6.2E-02 0 0
CUI: C1839816
Disease: Long neck
Long neck 		7 0 1 6.2E-02 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 1 6.2E-02 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 1 6.2E-02 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 1 6.2E-02 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		8 0 1 5.9E-02 0 0