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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome
1 0 1 7.1E-02 0 0
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
1 0 1 7.1E-02 0 0
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
1 0 1 7.1E-02 0 0
CUI: C0840564
Disease: Rupture of bladder
Rupture of bladder
1 0 1 7.1E-02 0 0
CUI: C1303076
Disease: Tortuous carotid artery
Tortuous carotid artery
1 0 1 7.1E-02 0 0
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
1 0 1 7.1E-02 0 0
Nonsyndromic sensorineural hearing loss
1 0 1 7.1E-02 0 0
Subcortical white matter calcifications
1 0 1 7.1E-02 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications
1 0 1 7.1E-02 0 0
Calcific stippling of infantile cartilaginous skeleton
1 0 1 7.1E-02 0 0
Second metatarsal posteriorly placed
1 0 1 7.1E-02 0 0
Hyperinsulinemic Hypoglycemia, Familial, 5
1 0 1 7.1E-02 0 0
Peroxisome Biogenesis Disorder, Complementation Group 11
1 0 1 7.1E-02 0 0
Peroxisome Biogenesis Disorder, Complementation Group R
1 0 1 7.1E-02 0 0
CUI: C2675191
Disease: Polymicrogyria, Bilateral Occipital
Polymicrogyria, Bilateral Occipital
1 0 1 7.1E-02 0 0
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11
1 0 1 7.1E-02 0 0
CUI: C2749346
Disease: Refsum Disease, Adult, 2
Refsum Disease, Adult, 2
1 0 1 7.1E-02 0 0
MACULAR DEGENERATION, AGE-RELATED, 5
1 0 1 7.1E-02 0 0
CUI: C3277945
Disease: Atretic gallbladder
Atretic gallbladder
1 0 1 7.1E-02 0 0
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
1 0 1 7.1E-02 0 0
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
1 38 1 7.1E-02 1 2.4E-02
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B
1 35 1 7.1E-02 2 5.4E-02
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
1 0 1 7.1E-02 0 0
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness
1 2 1 7.1E-02 2 0.50
Sacrococcygeal pilonidal abnormality
1 0 1 7.1E-02 0 0