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: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 5 1.00 0 0
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 3 0.38 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 3 0.38 0 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 3 0.33 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 3 0.30 0 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		9 0 3 0.27 0 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		9 0 3 0.27 0 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		5 0 2 0.25 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 4 0.24 0 0
CUI: C0340031
Disease: Mucociliary clearance defect
Mucociliary clearance defect 		1 0 1 0.20 0 0
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		1 0 1 0.20 0 0
CUI: C0478093
Disease: Other congenital malformation syndromes with other skeletal changes
Other congenital malformation syndromes with other skeletal changes 		1 0 1 0.20 0 0
CUI: C0740850
Disease: airway disease restrictive
airway disease restrictive 		1 0 1 0.20 0 0
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2 		1 0 1 0.20 0 0
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		1 0 1 0.20 0 0
CUI: C4017372
Disease: SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY 		1 0 1 0.20 0 0
CUI: C4024837
Disease: Congenital palmoplantar keratodermia
Congenital palmoplantar keratodermia 		1 0 1 0.20 0 0
CUI: C4540439
Disease: RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 80 		1 0 1 0.20 0 0
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		1 0 1 0.20 0 0
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		1 0 1 0.20 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 4 0.19 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 4 0.18 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 5 0.17 0 0
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		2 0 1 0.17 0 0
CUI: C1855694
Disease: Hypoplasia of the primary teeth
Hypoplasia of the primary teeth 		2 0 1 0.17 0 0