Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Abnormal lactate dehydrogenase activity
19 0 1 4.4E-04 0 0
Congenital disorder of glycosylation type 1s
19 0 1 4.4E-04 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease
19 0 1 4.4E-04 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
18 0 1 4.4E-04 0 0
Paroxysmal familial ventricular fibrillation
18 0 1 4.4E-04 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue
18 0 1 4.4E-04 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
18 0 1 4.4E-04 0 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response
18 0 1 4.4E-04 0 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait
18 0 1 4.4E-04 0 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna
18 0 1 4.4E-04 0 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function
18 0 1 4.4E-04 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness
18 0 1 4.4E-04 0 0
Morphological abnormality of the pyramidal tract
18 0 1 4.4E-04 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures
18 0 1 4.4E-04 0 0
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test
17 0 1 4.4E-04 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 1 4.4E-04 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I
17 0 1 4.4E-04 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle
17 0 1 4.4E-04 0 0
CUI: C0151594
Disease: Hemorrhagic diarrhea
Hemorrhagic diarrhea
16 0 1 4.4E-04 0 0
Embryonal nuclear cataract (disorder)
16 0 1 4.4E-04 0 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus
16 0 1 4.4E-04 0 0
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile
16 0 1 4.4E-04 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs
16 0 1 4.4E-04 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction
16 0 1 4.4E-04 0 0
Recurrent infection of the gastrointestinal tract
16 0 1 4.4E-04 0 0