Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
10 0 10 0.33 0 0
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
10 0 10 0.33 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail
11 0 10 0.32 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail
12 0 10 0.31 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia
20 0 10 0.25 0 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
14 0 8 0.22 0 0
Abnormality of immune system physiology
42 0 13 0.22 0 0
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
15 0 8 0.22 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
38 0 12 0.21 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality
29 0 10 0.20 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
35 0 11 0.20 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
41 0 11 0.18 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone
40 0 10 0.17 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
76 0 15 0.16 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 5 0.16 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
6 0 5 0.16 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
42 0 10 0.16 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 5 0.16 0 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia
39 0 9 0.15 0 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
34 0 8 0.14 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
11 0 5 0.14 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
12 0 5 0.14 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
12 0 5 0.14 0 0
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
56 0 10 0.13 0 0
Bilateral single transverse palmar creases
65 0 11 0.13 0 0