Source: CLINVAR ×
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: C0030583
Disease: Parotitis
Parotitis 		2 1 2 0.50 1 0.33
CUI: C0043352
Disease: Xerostomia
Xerostomia 		2 1 2 0.50 1 0.33
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		2 1 2 0.50 1 0.33
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		2 9 2 0.50 1 9.1E-02
CUI: C3280977
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 		2 0 2 0.50 0 0
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		2 2 2 0.50 1 0.25
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		3 2 2 0.40 1 0.25
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		3 2 2 0.40 1 0.25
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		4 4 2 0.33 1 0.17
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		4 3 2 0.33 1 0.20
CUI: C0012569
Disease: Diplopia
Diplopia 		5 5 2 0.29 1 0.14
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		6 5 2 0.25 1 0.14
CUI: C0040264
Disease: Tinnitus
Tinnitus 		6 7 2 0.25 1 0.11
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		6 6 2 0.25 1 0.12
CUI: C0234376
Disease: Action Tremor
Action Tremor 		1 0 1 0.25 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		1 0 1 0.25 0 0
CUI: C0271616
Disease: Precocious female puberty
Precocious female puberty 		1 1 1 0.25 1 0.33
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 6 2 0.25 1 0.12
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		1 0 1 0.25 0 0
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		1 48 1 0.25 1 2.0E-02
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		1 0 1 0.25 0 0
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		1 2 1 0.25 1 0.25
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 9 2 0.22 1 9.1E-02
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		7 7 2 0.22 1 0.11
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		2 3 1 0.20 1 0.20