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: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
2 1 2 1.00 1 5.2E-03
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
2 58 2 1.00 57 0.29
CUI: C0003081
Disease: Anisometropia
Anisometropia
1 0 1 0.50 0 0
CUI: C0003090
Disease: Ankylosis
Ankylosis
1 0 1 0.50 0 0
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
1 0 1 0.50 0 0
CUI: C0023801
Disease: Lipomatosis
Lipomatosis
1 0 1 0.50 0 0
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)
1 0 1 0.50 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
1 0 1 0.50 0 0
CUI: C1835047
Disease: MELANOMA, CUTANEOUS MALIGNANT, 1
MELANOMA, CUTANEOUS MALIGNANT, 1
1 0 1 0.50 0 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
1 0 1 0.50 0 0
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
1 0 1 0.50 0 0
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2
1 6 1 0.50 5 2.6E-02
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome
1 0 1 0.50 0 0
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
1 0 1 0.50 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
2 0 1 0.33 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
2 0 1 0.33 0 0
CUI: C0205822
Disease: Hibernoma
Hibernoma
2 0 1 0.33 0 0
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma
2 0 1 0.33 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
2 0 1 0.33 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
2 0 1 0.33 0 0
Cutis Gyrata Syndrome of Beare And Stevenson
2 0 1 0.33 0 0
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
2 21 1 0.33 17 8.6E-02
Antley-Bixler Syndrome with Disordered Steroidogenesis
2 0 1 0.33 0 0
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease
2 0 1 0.33 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
2 56 1 0.33 56 0.29