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: C2678480
Disease: Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Deletion Syndrome, Distal 		3 0 3 9.7E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 6 9.4E-02 0 0
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B 		4 0 3 9.4E-02 0 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 0 3 9.1E-02 0 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 6 9.1E-02 0 0
CUI: C1850259
Disease: Short tibia
Short tibia 		17 0 4 9.1E-02 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 8 9.1E-02 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 6 9.1E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 16 9.0E-02 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		19 0 4 8.7E-02 0 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		19 0 4 8.7E-02 0 0
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		7 0 3 8.6E-02 0 0
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger 		7 0 3 8.6E-02 0 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		7 0 3 8.6E-02 0 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		34 0 5 8.3E-02 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 8 8.3E-02 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 8.3E-02 0 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		8 0 3 8.3E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 8 8.2E-02 0 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		22 0 4 8.2E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 7 8.1E-02 0 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		9 0 3 8.1E-02 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 3 8.1E-02 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 11 7.9E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 7 7.8E-02 0 0