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: C0478093
Disease: Other congenital malformation syndromes with other skeletal changes
Other congenital malformation syndromes with other skeletal changes 		1 0 1 1.00 0 0
CUI: C4017372
Disease: SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY 		1 0 1 1.00 0 0
CUI: C4518774
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy 		3 0 1 0.33 0 0
CUI: C0796095
Disease: Opitz trigonocephaly syndrome
Opitz trigonocephaly syndrome 		4 0 1 0.25 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 1 0.20 0 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		5 20 1 0.20 4 0.12
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 1 0.20 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 1 9.1E-02 0 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		11 0 1 9.1E-02 0 0
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		11 0 1 9.1E-02 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 1 8.3E-02 0 0
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 1 7.1E-02 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 1 6.2E-02 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 1 5.0E-02 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 1 4.8E-02 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 1 4.2E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 1 3.8E-02 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 1 3.4E-02 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 1 3.4E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 1 3.4E-02 1 1.8E-02
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 3.3E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 1 3.2E-02 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 1 2.6E-02 0 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 1 2.4E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 1 2.4E-02 0 0