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: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		5 0 5 0.18 0 0
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		30 0 6 0.12 0 0
CUI: C1832117
Disease: Short humerus
Short humerus 		24 0 5 0.11 0 0
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		4 0 3 0.10 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 5 0.10 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 5 9.3E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 0 7 9.2E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 7 9.0E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 7 8.9E-02 0 0
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body) 		9 0 3 8.8E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 5 8.6E-02 0 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia 		10 0 3 8.6E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 4 8.5E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 6 8.5E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 8 8.4E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 0 4 8.3E-02 0 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		12 0 3 8.1E-02 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 6 7.6E-02 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 3 7.5E-02 0 0
CUI: C1735591
Disease: VACTERL Association
VACTERL Association 		15 0 3 7.5E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 6 7.2E-02 0 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		17 0 3 7.1E-02 0 0
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		2 0 2 7.1E-02 0 0
CUI: C1835798
Disease: Anoperineal fistula
Anoperineal fistula 		2 0 2 7.1E-02 0 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe 		2 0 2 7.1E-02 0 0