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 0.24 0 0
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
10 0 10 0.24 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail
11 0 10 0.23 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail
12 0 10 0.23 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia
20 0 11 0.22 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs
29 0 12 0.20 0 0
Abnormality of pelvic girdle bone morphology
55 0 16 0.20 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
16 0 9 0.18 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality
29 0 11 0.18 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
20 0 9 0.17 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
69 0 16 0.17 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
21 0 9 0.17 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
35 0 11 0.17 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
29 0 10 0.16 0 0
Abnormality of the intervertebral disk
30 0 10 0.16 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly
45 0 12 0.16 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
41 0 11 0.15 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
73 0 15 0.15 0 0
CUI: C0426789
Disease: Short thorax
Short thorax
51 0 12 0.15 0 0
CUI: C0426817
Disease: Short ribs
Short ribs
60 0 13 0.15 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
38 0 10 0.14 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
46 0 11 0.14 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone
40 0 10 0.14 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
49 0 11 0.14 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
85 0 15 0.13 0 0