Source: CLINVAR ×
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 6 9.5E-02 10 4.1E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 17 0.42 110 0.43
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 0 1 3.8E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 2 3.1E-02 0 0
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		2 4 1 3.7E-02 3 2.0E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 0 1 2.6E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 3 5.2E-02 1 5.1E-03
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 27 5 0.16 14 8.5E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		7 0 1 3.1E-02 0 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 0 1 3.2E-02 0 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		6 6 1 3.2E-02 1 6.4E-03
CUI: C0012569
Disease: Diplopia
Diplopia 		5 0 1 3.3E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 2.1E-02 1 5.7E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.7E-02 0 0
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		2 13 2 7.7E-02 7 4.4E-02
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		2 0 1 3.7E-02 0 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		1 0 1 3.8E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.7E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		7 0 1 3.1E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		11 0 1 2.8E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 3 6.1E-02 1 5.4E-03
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 115 12 0.33 67 0.34
CUI: C0018552
Disease: Hamartoma
Hamartoma 		4 0 1 3.4E-02 0 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 98 2 7.1E-02 6 2.5E-02
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 3 0.11 1 6.4E-03