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: C1839798
Disease: Long nose
Long nose
29 0 5 0.12 0 0
Plantar crease between first and second toes
2 0 2 0.12 0 0
Fifth finger distal phalanx clinodactyly
2 0 2 0.12 0 0
CUI: C4025806
Disease: High axial triradius
High axial triradius
2 0 2 0.12 0 0
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1
2 0 2 0.12 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth
3 0 2 0.11 0 0
Progressive conductive hearing impairment
3 0 2 0.11 0 0
Radial deviation of thumb terminal phalanx
3 0 2 0.11 0 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes
4 0 2 0.11 0 0
CUI: C1867131
Disease: Broad hallux
Broad hallux
48 14 6 0.10 1 7.1E-02
CUI: C0399357
Disease: Talon cusp
Talon cusp
5 0 2 1.0E-01 0 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum
5 0 2 1.0E-01 0 0
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome
6 0 2 9.5E-02 0 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum
6 0 2 9.5E-02 0 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
6 0 2 9.5E-02 0 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis
6 0 2 9.5E-02 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux
6 0 2 9.5E-02 0 0
Papillary cystadenoma of the epididymis
6 0 2 9.5E-02 0 0
CUI: C1844573
Disease: Large earlobe
Large earlobe
18 0 3 9.4E-02 0 0
Premature development of the breasts
7 0 2 9.1E-02 0 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy
7 0 2 9.1E-02 0 0
Aplasia/Hypoplasia of the middle phalanges of the hand
7 0 2 9.1E-02 0 0
Hypomineralization of enamel of tooth
7 0 2 9.1E-02 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
8 0 2 8.7E-02 0 0
CUI: C0221214
Disease: Vascular ring
Vascular ring
8 0 2 8.7E-02 0 0