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: C0016689
Disease: Freckles
Freckles 		45 0 4 6.9E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 10 3 6.7E-02 1 7.1E-02
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 2 6.7E-02 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 2 6.5E-02 0 0
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		16 0 2 6.5E-02 0 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		34 0 3 6.2E-02 0 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		17 0 2 6.2E-02 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 0 5 6.2E-02 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 1 3 6.1E-02 1 0.20
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		18 0 2 6.1E-02 0 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		18 0 2 6.1E-02 0 0
CUI: C0023321
Disease: Lentigo
Lentigo 		19 0 2 5.9E-02 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 1 1 5.9E-02 1 0.20
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 5.9E-02 0 0
CUI: C0239894
Disease: HEART DISPLACEMENT
HEART DISPLACEMENT 		1 0 1 5.9E-02 0 0
CUI: C0241633
Disease: Vaginal dryness
Vaginal dryness 		1 0 1 5.9E-02 0 0
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 0 1 5.9E-02 0 0
CUI: C0268461
Disease: Disorder of phenylalanine metabolism
Disorder of phenylalanine metabolism 		1 0 1 5.9E-02 0 0
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		1 0 1 5.9E-02 0 0
CUI: C0268514
Disease: Urocanase deficiency
Urocanase deficiency 		1 0 1 5.9E-02 0 0
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis 		1 0 1 5.9E-02 0 0
CUI: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation 		1 0 1 5.9E-02 0 0
CUI: C0346977
Disease: Secondary malignant neoplasm of spleen
Secondary malignant neoplasm of spleen 		1 0 1 5.9E-02 0 0
CUI: C0349711
Disease: Sialic storage disease
Sialic storage disease 		1 0 1 5.9E-02 0 0
CUI: C0429803
Disease: Bladder trabeculation
Bladder trabeculation 		1 0 1 5.9E-02 0 0