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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
2 30 2 1.00 13 0.41
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea
2 0 2 1.00 0 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion
2 0 2 1.00 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
1 14 1 0.50 8 0.38
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
1 0 1 0.50 0 0
Encephalocraniocutaneous lipomatosis
1 3 1 0.50 1 5.9E-02
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
1 1 1 0.50 1 6.7E-02
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra
1 0 1 0.50 0 0
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
1 4 1 0.50 1 5.6E-02
CUI: C0546297
Disease: Hallux Varus
Hallux Varus
4 0 2 0.50 0 0
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis
1 0 1 0.50 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
1 1 1 0.50 1 6.7E-02
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
1 0 1 0.50 0 0
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
1 16 1 0.50 1 3.3E-02
Cutis Gyrata Syndrome of Beare And Stevenson
1 13 1 0.50 8 0.40
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe
1 0 1 0.50 0 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow
1 0 1 0.50 0 0
Abnormal morphology of the limbic system
1 0 1 0.50 0 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly
1 0 1 0.50 0 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux
1 0 1 0.50 0 0
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
1 9 1 0.50 8 0.50
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
1 1 1 0.50 1 6.7E-02
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
1 1 1 0.50 1 6.7E-02
Antley-Bixler Syndrome, Autosomal Dominant
1 10 1 0.50 9 0.56
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
1 10 1 0.50 8 0.47