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: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
14 2 7 0.21 0 1 7.7E-02 0
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 12 7 0.19 0 5 0.26 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
24 1 6 0.14 0 0 0
CUI: C0239399
Disease: Short extremities
Short extremities
13 3 4 0.11 0 0 0
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment
13 1 4 0.11 0 1 8.3E-02 0
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis
4 0 3 0.11 0 0 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
14 1 4 0.11 0 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
4 0 3 0.11 0 0 0
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
14 0 4 0.11 0 0 0
CUI: C4280674
Disease: Agenesis of parotid duct
Agenesis of parotid duct
4 0 3 0.11 0 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
65 51 9 0.11 0 3 5.0E-02 0
CUI: C0344509
Disease: Agenesis of punctum lacrimale
Agenesis of punctum lacrimale
5 0 3 0.11 0 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of
6 0 3 0.10 0 0 0
CUI: C2698750
Disease: Pediatric follicular lymphoma
Pediatric follicular lymphoma
6 0 3 0.10 0 0 0
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder
7 1 3 1.0E-01 0 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
7 18 3 1.0E-01 0 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia
19 15 4 9.8E-02 0 0 0
CUI: C0005974
Disease: Bone Resorption
Bone Resorption
8 0 3 9.7E-02 0 0 0
CUI: C0085700
Disease: Chondromalacia
Chondromalacia
8 0 3 9.7E-02 0 0 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
20 0 4 9.5E-02 0 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
44 3 6 9.4E-02 0 0 0
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis
21 1 4 9.3E-02 0 0 0
CUI: C0022906
Disease: Lacrimal Duct Obstruction
Lacrimal Duct Obstruction
11 0 3 8.8E-02 0 0 0
CUI: C0272173
Disease: Myelokathexis
Myelokathexis
11 1 3 8.8E-02 0 0 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct
11 0 3 8.8E-02 0 0 0