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: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 6 9.1E-02 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 12 9.0E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 0 4 8.9E-02 0 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		12 0 4 8.9E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 7 8.9E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 8 8.7E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 10 8.6E-02 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		26 0 5 8.6E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 10 8.5E-02 0 0
CUI: C0549306
Disease: Mesomelia
Mesomelia 		27 0 5 8.5E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 6 8.5E-02 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 8 8.4E-02 0 0
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		15 0 4 8.3E-02 0 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		41 0 6 8.3E-02 0 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		55 0 7 8.2E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 10 8.2E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 0 7 8.1E-02 0 0
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		3 0 3 8.1E-02 0 0
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		3 0 3 8.1E-02 0 0
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		3 0 3 8.1E-02 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 3 8.1E-02 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 3 8.1E-02 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 3 8.1E-02 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 3 8.1E-02 0 0
CUI: C4023395
Disease: Patchy hypopigmentation of hair
Patchy hypopigmentation of hair 		3 0 3 8.1E-02 0 0