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: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 30 0.12 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 28 0.11 12 6.2E-02
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 25 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 93 0.11 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 25 0.11 9 0.15
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 26 0.11 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 30 0.11 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 29 0.11 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 32 0.11 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 77 0.11 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 65 0.11 3 2.9E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 28 0.11 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 21 0.11 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 24 0.11 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		96 103 27 0.11 2 1.4E-02
CUI: C3887499
Disease: Renal cyst
Renal cyst 		170 0 34 0.10 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 0 20 0.10 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 55 0.10 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 27 1.0E-01 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 13 35 1.0E-01 1 1.8E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 47 9.8E-02 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 39 9.7E-02 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 14 26 9.6E-02 1 1.8E-02
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		100 0 25 9.5E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 26 9.5E-02 2 3.4E-02