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: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		4 0 3 0.25 0 0
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		3 0 2 0.17 0 0
CUI: C1849334
Disease: Robinow syndrome, autosomal recessive
Robinow syndrome, autosomal recessive 		4 0 2 0.15 0 0
CUI: C4021326
Disease: Aplasia/Hypoplasia of the distal phalanges of the toes
Aplasia/Hypoplasia of the distal phalanges of the toes 		4 0 2 0.15 0 0
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		6 0 2 0.13 0 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		17 0 3 0.12 0 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		11 0 2 1.0E-01 0 0
CUI: C1865038
Disease: Broad toe
Broad toe 		11 0 2 1.0E-01 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		11 0 2 1.0E-01 0 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		11 0 2 1.0E-01 0 0
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		1 0 1 9.1E-02 0 0
CUI: C0344987
Disease: Bicuspid pulmonary valve
Bicuspid pulmonary valve 		1 0 1 9.1E-02 0 0
CUI: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B 		1 0 1 9.1E-02 0 0
CUI: C1846422
Disease: Bilobate gallbladder
Bilobate gallbladder 		1 0 1 9.1E-02 0 0
CUI: C2750451
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 		1 0 1 9.1E-02 0 0
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		1 0 1 9.1E-02 0 0
CUI: C4020797
Disease: Microtia, second degree
Microtia, second degree 		1 0 1 9.1E-02 0 0
CUI: C4023634
Disease: Echogenic intracardiac focus
Echogenic intracardiac focus 		1 1 1 9.1E-02 1 0.17
CUI: C4049798
Disease: Total Respiratory System Resistance
Total Respiratory System Resistance 		1 0 1 9.1E-02 0 0
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		1 0 1 9.1E-02 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome 		1 0 1 9.1E-02 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 9.1E-02 0 0
CUI: C4476883
Disease: Abnormal pulmonary vein morphology
Abnormal pulmonary vein morphology 		1 0 1 9.1E-02 0 0
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		1 0 1 9.1E-02 0 0
CUI: C4479333
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION 		1 1 1 9.1E-02 1 0.17