Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
20 18 12 0.60 10 0.56
CUI: C0342341
Disease: Post-surgical hypoparathyroidism
Post-surgical hypoparathyroidism
2 0 2 0.17 0 0
CUI: C0426874
Disease: Trident hand
Trident hand
2 0 2 0.17 0 0
CUI: C3278024
Disease: Enlarged cerebellum
Enlarged cerebellum
3 0 2 0.15 0 0
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
11 17 3 0.15 7 0.35
Nevus, Keratinocytic, Nonepidermolytic
4 0 2 0.14 0 0
CUI: C4543877
Disease: Osteopenia due to disuse
Osteopenia due to disuse
4 0 2 0.14 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
46 21 7 0.14 6 0.24
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
5 0 2 0.13 0 0
CUI: C3179502
Disease: Linear Verrucous Epidermal Nevus
Linear Verrucous Epidermal Nevus
5 0 2 0.13 0 0
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus
6 1 2 0.12 1 1.0E-01
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum
6 0 2 0.12 0 0
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma
6 0 2 0.12 0 0
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
7 0 2 0.12 0 0
Papillary transitional cell neoplasm of low malignant potential
7 0 2 0.12 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
8 0 2 0.11 0 0
CUI: C0687140
Disease: Hemangioma of skin
Hemangioma of skin
8 0 2 0.11 0 0
CUI: C1849677
Disease: Numerous nevi
Numerous nevi
8 0 2 0.11 0 0
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma
9 2 2 0.11 1 9.1E-02
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis
10 0 2 1.0E-01 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
11 0 2 9.5E-02 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome
11 0 2 9.5E-02 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
11 0 2 9.5E-02 0 0
CUI: C0037856
Disease: Spermatic Cord Torsion
Spermatic Cord Torsion
23 0 3 9.4E-02 0 0
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
23 0 3 9.4E-02 0 0