Source: ALL
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: C0266878
Disease: External resorption of tooth
External resorption of tooth 		1 0 1 1.00 0 0
CUI: C0686761
Disease: Lack of bone formation
Lack of bone formation 		1 0 1 1.00 0 0
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		1 0 1 1.00 0 0
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 		1 0 1 1.00 0 0
CUI: C1861516
Disease: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 		1 0 1 1.00 0 0
CUI: C1861517
Disease: Abnormal facility in opposing the shoulders
Abnormal facility in opposing the shoulders 		1 0 1 1.00 0 0
CUI: C1861531
Disease: Long second metacarpal
Long second metacarpal 		1 0 1 1.00 0 0
CUI: C3549874
Disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 		1 0 1 1.00 0 0
CUI: C4016655
Disease: CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS 		1 0 1 1.00 0 0
CUI: C1857131
Disease: Absent paranasal sinuses
Absent paranasal sinuses 		2 0 1 0.50 0 0
CUI: C1404521
Disease: Limb-girdle myopathy
Limb-girdle myopathy 		3 0 1 0.33 0 0
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		3 0 1 0.33 0 0
CUI: C1866710
Disease: Delayed pubic bone ossification
Delayed pubic bone ossification 		3 0 1 0.33 0 0
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		4 0 1 0.25 0 0
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		4 0 1 0.25 0 0
CUI: C4021435
Disease: Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger 		4 0 1 0.25 0 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 0 1 0.20 0 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis 		5 0 1 0.20 0 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature 		5 0 1 0.20 0 0
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		6 0 1 0.17 0 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		6 0 1 0.17 0 0
CUI: C4023457
Disease: Short face
Short face 		6 0 1 0.17 0 0
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2 		6 0 1 0.17 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		7 0 1 0.14 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 1 0.14 0 0