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: C0239801
Disease: Blonde hair
Blonde hair 		13 0 13 0.76 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 2 8 0.22 1 0.17
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		6 0 3 0.15 0 0
CUI: C1300261
Disease: Acroscyphodysplasia
Acroscyphodysplasia 		2 0 2 0.12 0 0
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		2 0 2 0.12 0 0
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		2 0 2 0.12 0 0
CUI: C4721502
Disease: Peripheral dysostosis
Peripheral dysostosis 		2 0 2 0.12 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 3 0.11 1 6.2E-02
CUI: C4021651
Disease: Hypoplasia of the nasal bone
Hypoplasia of the nasal bone 		3 0 2 0.11 0 0
CUI: C4024667
Disease: Congenital craniofacial dysostosis
Congenital craniofacial dysostosis 		3 0 2 0.11 0 0
CUI: C1300206
Disease: Blomstrand dysplasia
Blomstrand dysplasia 		4 0 2 0.11 0 0
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		5 0 2 1.0E-01 0 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		5 0 2 1.0E-01 0 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		6 0 2 9.5E-02 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 2 9.5E-02 0 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		20 0 3 8.8E-02 0 0
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		9 0 2 8.3E-02 0 0
CUI: C0239803
Disease: Red hair
Red hair 		9 0 2 8.3E-02 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 3 8.1E-02 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 2 8.0E-02 0 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		11 0 2 7.7E-02 0 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		12 1 2 7.4E-02 1 0.20
CUI: C4022143
Disease: Unilateral cleft palate
Unilateral cleft palate 		12 1 2 7.4E-02 1 0.20
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 2 7.1E-02 2 0.18
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 0 5 6.9E-02 0 0