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: C1839546
Disease: Microretrognathia
Microretrognathia 		53 6 1 1.9E-02 1 8.3E-02
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		56 0 1 1.8E-02 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 2 1 1.7E-02 1 0.12
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		62 0 1 1.6E-02 0 0
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		63 0 1 1.6E-02 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 1 1.5E-02 0 0
CUI: C1368019
Disease: Paget Disease
Paget Disease 		66 0 1 1.5E-02 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 1 1.5E-02 0 0
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		71 0 1 1.4E-02 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 1 1.4E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 1 1.4E-02 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 1 1.3E-02 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 1 1.3E-02 0 0
CUI: C0035920
Disease: Rubella
Rubella 		82 0 1 1.2E-02 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 1 1.2E-02 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 1 1.2E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 7 1 1.2E-02 1 7.7E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 0 1 1.2E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 9.6E-03 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 1 9.4E-03 1 4.8E-02
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 1 8.8E-03 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 1 8.6E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 8.5E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 8.0E-03 0 0