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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.1E-03 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 2 3.5E-02 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 1 5.9E-02 1 8.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 3.1E-02 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 0 1 5.0E-02 0 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 0 1 5.9E-02 0 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 66 3 0.21 1 1.4E-02
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		16 0 2 0.11 0 0
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 0 1 0.14 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.1E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 2 5.9E-02 0 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 0 1 0.20 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.3E-02 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 17 2 0.13 1 5.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 1 2.6E-02 1 2.0E-02
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 0 1 6.7E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 3 2 0.29 1 0.17
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		6 0 1 1.0E-01 0 0
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		2 0 1 0.17 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 115 2 8.0E-02 2 1.7E-02
CUI: C0017639
Disease: Gliosis
Gliosis 		4 3 2 0.29 1 0.17
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 0 1 0.12 0 0
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 0 1 0.12 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 15 1 6.2E-02 1 5.6E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 3.8E-02 0 0