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: C0234244
Disease: Tissue Pain
Tissue Pain
1 0 1 1.00 0 0
Osteoarthropathy of fingers familial
1 0 1 1.00 0 0
Spondylometaphyseal dysplasia, Kozlowski type
1 11 1 1.00 1 6.2E-02
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism
1 19 1 1.00 1 4.2E-02
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3
1 3 1 1.00 1 0.12
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior
1 0 1 1.00 0 0
Digital Arthropathy-Brachydactyly, Familial
1 4 1 1.00 1 0.11
CUI: C1847408
Disease: Brachytelomesophalangy
Brachytelomesophalangy
1 0 1 1.00 0 0
CUI: C1866703
Disease: Severe carpal ossification delay
Severe carpal ossification delay
1 0 1 1.00 0 0
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism
1 2 1 1.00 1 0.14
Charcot-Marie-Tooth disease, Type 2C
1 0 1 1.00 0 0
Childhood-onset short-trunk short stature
1 0 1 1.00 0 0
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
1 1 1 1.00 1 0.17
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
1 5 1 1.00 1 1.0E-01
CUI: C3277114
Disease: Relatively short spine
Relatively short spine
1 0 1 1.00 0 0
CUI: C3277116
Disease: Long coccyx
Long coccyx
1 0 1 1.00 0 0
CUI: C3277119
Disease: Halberd-shaped pelvis
Halberd-shaped pelvis
1 0 1 1.00 0 0
Hyperplasia of the femoral trochanters
1 0 1 1.00 0 0
CUI: C3277123
Disease: Dumbbell-shaped metaphyses
Dumbbell-shaped metaphyses
1 0 1 1.00 0 0
Absent primary metaphyseal spongiosa
1 0 1 1.00 0 0
Abnormal metaphyseal vascular invasion
1 0 1 1.00 0 0
CUI: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1
1 0 1 1.00 0 0
Shortening of all middle phalanges of the toes
1 0 1 1.00 0 0
CUI: C4024611
Disease: Nonprogressive muscular atrophy
Nonprogressive muscular atrophy
1 0 1 1.00 0 0
CUI: C0240017
Disease: Intercostal muscle weakness
Intercostal muscle weakness
2 0 1 0.50 0 0