Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Renal dysplasia and retinal aplasia (disorder)
20 0 10 0.31 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands
10 0 5 0.19 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
49 0 10 0.16 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital
63 0 11 0.15 0 0
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
14 0 4 0.12 0 0
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3
6 0 3 0.12 0 0
CUI: C4023457
Disease: Short face
Short face
6 0 3 0.12 0 0
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile
17 0 4 0.11 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
77 0 10 0.11 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid
28 0 5 0.11 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft
8 0 3 0.11 0 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
8 0 3 0.11 0 0
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
18 0 4 0.11 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone
29 0 5 0.11 0 0
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease
9 0 3 0.11 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
53 0 7 0.10 0 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
22 0 4 1.0E-01 0 0
CUI: C0685787
Disease: Cleft face
Cleft face
23 0 4 9.8E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column
24 0 4 9.5E-02 0 0
Streptococcal lymphadenitis of swine
13 0 3 9.4E-02 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
96 0 10 9.3E-02 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia
14 0 3 9.1E-02 0 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR
2 0 2 9.1E-02 0 0
CUI: C2931860
Disease: Monosomy 5p
Monosomy 5p
2 0 2 9.1E-02 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal
14 0 3 9.1E-02 0 0