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: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		24 0 22 0.12 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 10 57 0.11 1 1.4E-02
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 23 0.11 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 18 34 0.11 1 1.2E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 47 0.11 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 30 0.11 0 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		86 0 27 0.11 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 41 0.11 0 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		37 0 22 0.11 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 31 0.11 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 23 0.11 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 49 0.11 0 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		39 0 22 0.11 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 23 0.11 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 75 0.11 2 1.4E-02
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 22 0.11 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 21 0.10 3 4.5E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 113 0.10 0 0
CUI: C0030486
Disease: Paraplegia
Paraplegia 		59 0 23 0.10 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 10 46 0.10 1 1.4E-02
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		60 0 23 0.10 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 56 0.10 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 55 0.10 3 3.1E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 120 0.10 10 2.9E-02
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 22 0.10 2 2.9E-02