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: C0340031
Disease: Mucociliary clearance defect
Mucociliary clearance defect 		1 0 1 1.00 0 0
CUI: C0740850
Disease: airway disease restrictive
airway disease restrictive 		1 0 1 1.00 0 0
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		1 2 1 1.00 1 7.1E-02
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		1 1 1 1.00 1 7.7E-02
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		2 17 1 0.50 7 0.30
CUI: C1401781
Disease: Short uvula
Short uvula 		3 0 1 0.33 0 0
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		4 0 1 0.25 0 0
CUI: C0266647
Disease: Congenital anomalies of fetus
Congenital anomalies of fetus 		4 0 1 0.25 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 1 0.20 0 0
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 1 0.20 0 0
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 1 0.17 0 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		6 0 1 0.17 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 1 0.17 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		6 0 1 0.17 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 1 0.14 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 1 0.12 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 1 0.12 0 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		9 0 1 0.11 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 1 0.11 0 0
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		10 0 1 1.0E-01 0 0
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		11 0 1 9.1E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 9.1E-02 0 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		11 22 1 9.1E-02 1 2.9E-02
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition 		12 0 1 8.3E-02 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 1 7.7E-02 0 0