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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		5 0 1 0.14 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 5.0E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 3 0.11 87 2.9E-02
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 0.33 0 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 37 1 5.9E-02 1 4.3E-04
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 4 1 0.14 1 4.4E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.2E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 1 4.0E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		9 0 1 9.1E-02 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 5.9E-02 0 0
CUI: C0018681
Disease: Headache
Headache 		19 0 1 4.8E-02 0 0
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		6 6 1 0.12 1 4.4E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		5 0 1 0.14 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 1 5.0E-02 2 8.5E-04
CUI: C0025202
Disease: melanoma
melanoma 		25 129 1 3.7E-02 1 4.2E-04
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		7 0 1 0.11 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 3 4.5E-02 647 8.1E-02
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		5 48 1 0.14 2 8.6E-04
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 3.8E-02 0 0
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification 		2 0 1 0.25 0 0
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		3 0 1 0.20 0 0
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		3 4 1 0.20 1 4.4E-04