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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 0 1 7.1E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 2.9E-02 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 0 1 8.3E-02 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		11 0 1 5.6E-02 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 0 1 3.4E-02 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 1 6.7E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 0 1 5.3E-02 0 0
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		6 0 1 7.7E-02 0 0
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		2 0 1 0.11 0 0
CUI: C0023798
Disease: Lipoma
Lipoma 		5 0 1 8.3E-02 0 0
CUI: C0025202
Disease: melanoma
melanoma 		25 0 1 3.1E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.2E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 1.2E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 5.8E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		26 0 1 3.0E-02 0 0
CUI: C0029440
Disease: Osteoma
Osteoma 		2 0 1 0.11 0 0
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		4 0 1 9.1E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 2.0E-02 0 0
CUI: C0040485
Disease: Torticollis
Torticollis 		9 0 1 6.2E-02 0 0
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		2 0 1 0.11 0 0
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		2 0 1 0.11 0 0
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma 		1 0 1 0.12 0 0
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		3 0 1 1.0E-01 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		7 0 1 7.1E-02 0 0