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: C1849221
Disease: Fair hair
Fair hair 		17 0 13 0.76 0 0
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		6 0 3 0.19 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 6 0.17 0 0
CUI: C1300261
Disease: Acroscyphodysplasia
Acroscyphodysplasia 		2 0 2 0.15 0 0
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		2 0 2 0.15 0 0
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		2 0 2 0.15 0 0
CUI: C4721502
Disease: Peripheral dysostosis
Peripheral dysostosis 		2 0 2 0.15 0 0
CUI: C4021651
Disease: Hypoplasia of the nasal bone
Hypoplasia of the nasal bone 		3 0 2 0.14 0 0
CUI: C4024667
Disease: Congenital craniofacial dysostosis
Congenital craniofacial dysostosis 		3 0 2 0.14 0 0
CUI: C1300206
Disease: Blomstrand dysplasia
Blomstrand dysplasia 		4 0 2 0.13 0 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		6 0 2 0.12 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 2 0.12 0 0
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		9 0 2 1.0E-01 0 0
CUI: C0239803
Disease: Red hair
Red hair 		9 0 2 1.0E-01 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 2 9.5E-02 0 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		11 0 2 9.1E-02 0 0
CUI: C0241633
Disease: Vaginal dryness
Vaginal dryness 		1 0 1 7.7E-02 0 0
CUI: C0268461
Disease: Disorder of phenylalanine metabolism
Disorder of phenylalanine metabolism 		1 0 1 7.7E-02 0 0
CUI: C0268514
Disease: Urocanase deficiency
Urocanase deficiency 		1 0 1 7.7E-02 0 0
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis 		1 0 1 7.7E-02 0 0
CUI: C0349711
Disease: Sialic storage disease
Sialic storage disease 		1 0 1 7.7E-02 0 0
CUI: C0429803
Disease: Bladder trabeculation
Bladder trabeculation 		1 0 1 7.7E-02 0 0
CUI: C0431289
Disease: Frontal Encephalocele
Frontal Encephalocele 		1 0 1 7.7E-02 0 0
CUI: C0877313
Disease: Neonatal neuroblastoma
Neonatal neuroblastoma 		1 0 1 7.7E-02 0 0
CUI: C1302999
Disease: Ankyloblepharon filiforme adnatum
Ankyloblepharon filiforme adnatum 		1 0 1 7.7E-02 0 0