Source: ALL
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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 3 0.19 1 1.9E-02
CUI: C1519172
Disease: Salivary Gland Carcinoma ex Pleomorphic Adenoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma 		4 0 2 0.15 0 0
CUI: C4324434
Disease: Panniculus
Panniculus 		4 0 2 0.15 0 0
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		12 10 3 0.15 7 0.35
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia 		5 0 2 0.14 0 0
CUI: C4087491
Disease: End stage COPD
End stage COPD 		5 0 2 0.14 0 0
CUI: C0004998
Disease: Benign neoplasm of skin
Benign neoplasm of skin 		6 0 2 0.13 0 0
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion 		6 0 2 0.13 0 0
CUI: C1335965
Disease: Signet-ring cell adenocarcinoma gastric
Signet-ring cell adenocarcinoma gastric 		8 0 2 0.12 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 3 0.11 1 2.5E-02
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 3 0.11 14 0.67
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 5 9.6E-02 8 0.27
CUI: C0025211
Disease: Conjunctival melanosis
Conjunctival melanosis 		1 0 1 9.1E-02 0 0
CUI: C0028425
Disease: Crusted scabies
Crusted scabies 		1 0 1 9.1E-02 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 9.1E-02 0 0
CUI: C0279697
Disease: salivary gland squamous cell carcinoma
salivary gland squamous cell carcinoma 		1 0 1 9.1E-02 0 0
CUI: C0333243
Disease: Pitting edema
Pitting edema 		1 0 1 9.1E-02 0 0
CUI: C0334338
Disease: Endometrioid adenoma, borderline malignancy
Endometrioid adenoma, borderline malignancy 		1 0 1 9.1E-02 0 0
CUI: C0334566
Disease: Ghost Cell Odontogenic Carcinoma
Ghost Cell Odontogenic Carcinoma 		1 0 1 9.1E-02 0 0
CUI: C0340639
Disease: Carotid artery aneurysm
Carotid artery aneurysm 		1 0 1 9.1E-02 0 0
CUI: C0406571
Disease: Superficial fibromatosis
Superficial fibromatosis 		1 0 1 9.1E-02 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 9.1E-02 0 0
CUI: C0524686
Disease: Periodontitis, Acute Nonsuppurative
Periodontitis, Acute Nonsuppurative 		1 0 1 9.1E-02 0 0
CUI: C0542142
Disease: Recurrent Laryngeal Nerve Paralysis
Recurrent Laryngeal Nerve Paralysis 		1 0 1 9.1E-02 0 0
CUI: C0694457
Disease: Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) 		1 0 1 9.1E-02 0 0