Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Brachytelephalangic Chondrodysplasia Punctata
7 0 6 0.35 0 0
Chondrodysplasia punctata, X-linked dominant type
9 0 5 0.25 0 0
Chondrodysplasia Punctata, Rhizomelic
8 0 3 0.14 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses
28 0 5 0.13 0 0
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis
2 0 2 0.12 0 0
Multiple Sulfatase Deficiency Disease
11 0 3 0.12 0 0
X-Linked Chondrodysplasia Punctata 1
2 0 2 0.12 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling
3 0 2 0.12 0 0
CUI: C0265374
Disease: Warfarin syndrome
Warfarin syndrome
4 0 2 0.11 0 0
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
6 0 2 1.0E-01 0 0
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia
7 0 2 9.5E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
57 0 5 7.4E-02 0 0
Ichthyosiform Erythroderma, Congenital
31 0 3 6.8E-02 0 0
CUI: C0004093
Disease: Asthenia
Asthenia
16 0 2 6.7E-02 0 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus
16 0 2 6.7E-02 0 0
Placental Steroid Sulfatase Deficiency
17 0 2 6.5E-02 0 0
CUI: C0018121
Disease: Gradenigo Syndrome
Gradenigo Syndrome
1 0 1 6.2E-02 0 0
CUI: C0026686
Disease: Mucocele of salivary gland
Mucocele of salivary gland
1 0 1 6.2E-02 0 0
Malignant neoplasm of ureteric orifice
1 0 1 6.2E-02 0 0
CUI: C0155804
Disease: Acute maxillary sinusitis
Acute maxillary sinusitis
1 0 1 6.2E-02 0 0
CUI: C0162824
Disease: Dermatitis, Photoallergic
Dermatitis, Photoallergic
1 0 1 6.2E-02 0 0
CUI: C0264622
Disease: Psychogenic voice disorder
Psychogenic voice disorder
1 0 1 6.2E-02 0 0
CUI: C0270709
Disease: Rud Syndrome
Rud Syndrome
1 0 1 6.2E-02 0 0
CUI: C0333662
Disease: Hemiatrophy
Hemiatrophy
1 0 1 6.2E-02 0 0
CUI: C0342650
Disease: Periarticular calcification
Periarticular calcification
1 0 1 6.2E-02 0 0