Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Encephalocraniocutaneous lipomatosis
1 3 1 1.00 1 5.6E-02
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
1 1 1 1.00 1 6.2E-02
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra
1 0 1 1.00 0 0
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
1 4 1 1.00 1 5.3E-02
Hypogonadism, Isolated Hypogonadotropic
1 0 1 1.00 0 0
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
1 11 1 1.00 1 3.8E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
2 30 1 0.50 1 2.2E-02
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
2 15 1 0.50 1 3.3E-02
CUI: C1845147
Disease: Hypoplasia of the frontal bone
Hypoplasia of the frontal bone
2 0 1 0.50 0 0
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea
2 0 1 0.50 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion
2 0 1 0.50 0 0
CUI: C4025069
Disease: Multiple unerupted teeth
Multiple unerupted teeth
2 0 1 0.50 0 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
2 0 1 0.50 0 0
Rosette-forming glioneuronal neoplasm
2 0 1 0.50 0 0
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification
3 0 1 0.33 0 0
CUI: C0029429
Disease: Osteochondrosis
Osteochondrosis
4 0 1 0.25 0 0
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis
4 0 1 0.25 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus
4 0 1 0.25 0 0
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
4 24 1 0.25 1 2.6E-02
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
4 0 1 0.25 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
4 0 1 0.25 0 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding
5 0 1 0.20 0 0
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth
5 0 1 0.20 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
5 0 1 0.20 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis
5 0 1 0.20 0 0