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: C0431691
Disease: Unilateral Renal Hypoplasia
Unilateral Renal Hypoplasia
1 0 1 7.7E-02 0 0
CUI: C1266176
Disease: Atypical choroid plexus papilloma
Atypical choroid plexus papilloma
1 0 1 7.7E-02 0 0
CUI: C1332865
Disease: Cavernous Sinus Meningioma
Cavernous Sinus Meningioma
1 0 1 7.7E-02 0 0
CUI: C1333100
Disease: Squamous cell carcinoma of colon
Squamous cell carcinoma of colon
1 0 1 7.7E-02 0 0
CUI: C1842084
Disease: Posterior rib fusion
Posterior rib fusion
1 0 1 7.7E-02 0 0
CUI: C1845109
Disease: Exaggerated median tongue furrow
Exaggerated median tongue furrow
1 0 1 7.7E-02 0 0
CUI: C1846349
Disease: Impaired reabsorption of chloride
Impaired reabsorption of chloride
1 0 1 7.7E-02 0 0
Microphthalmia, Isolated, with Cataract 2
1 0 1 7.7E-02 0 0
Congenital disorder of glycosylation type 1G
1 0 1 7.7E-02 0 0
Congenital disorder of glycosylation, type 2G
1 0 1 7.7E-02 0 0
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
1 0 1 7.7E-02 0 0
CUI: C4025840
Disease: Abnormal sclera morphology
Abnormal sclera morphology
1 0 1 7.7E-02 0 0
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
1 0 1 7.7E-02 0 0
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS
1 0 1 7.7E-02 0 0
Developmental and speech delay due to SOX5 deficiency
1 0 1 7.7E-02 0 0
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome
1 0 1 7.7E-02 0 0
CUI: C0265342
Disease: Cerebrocostomandibular Syndrome
Cerebrocostomandibular Syndrome
2 0 1 7.1E-02 0 0
CUI: C1835798
Disease: Anoperineal fistula
Anoperineal fistula
2 0 2 0.15 0 0
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder)
2 0 1 7.1E-02 0 0
CUI: C1842696
Disease: Posterior rib gap
Posterior rib gap
2 0 1 7.1E-02 0 0
Bartter Syndrome, Type 3, with Hypocalciuria
2 0 1 7.1E-02 0 0
Klippel Feil syndrome recessive type
2 0 1 7.1E-02 0 0
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
2 0 1 7.1E-02 0 0
CUI: C1868705
Disease: Shone complex
Shone complex
2 0 1 7.1E-02 0 0
CUI: C2751312
Disease: BARTTER SYNDROME, TYPE 4B
BARTTER SYNDROME, TYPE 4B
2 0 1 7.1E-02 0 0