Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Partial duplication of the distal phalanx of the 3rd finger
2 0 2 0.11 0 0
Partial duplication of the distal phalanx of the 2nd finger
2 0 2 0.11 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion
2 0 2 0.11 0 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
3 0 2 0.11 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
3 0 2 0.11 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
3 0 2 0.11 0 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix
3 0 2 0.11 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal
14 0 3 0.10 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus
4 0 2 1.0E-01 0 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
15 0 3 1.0E-01 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
4 0 2 1.0E-01 0 0
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
16 0 3 9.7E-02 0 0
CUI: C0424690
Disease: Asymmetrical skull
Asymmetrical skull
5 0 2 9.5E-02 0 0
Isolated hypoplasia of the right ventricle
5 0 2 9.5E-02 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis
5 0 2 9.5E-02 0 0
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion
6 0 2 9.1E-02 0 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue
6 0 2 9.1E-02 0 0
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma
6 0 2 9.1E-02 0 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid
6 0 2 9.1E-02 0 0
CUI: C0409477
Disease: Ankylosis of the elbow joint
Ankylosis of the elbow joint
7 0 2 8.7E-02 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
7 0 2 8.7E-02 0 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal
7 0 2 8.7E-02 0 0
Shortening of all middle phalanges of the fingers
7 0 2 8.7E-02 0 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
20 0 3 8.6E-02 0 0
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA
20 0 3 8.6E-02 0 0