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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 5.6E-02 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		1 1 1 0.33 1 4.4E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		5 0 1 0.14 0 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 0 1 9.1E-02 0 0
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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.4E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		7 8 1 0.11 1 4.4E-04
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 0 2 0.17 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		15 37 2 0.12 5 2.2E-03
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		2 2633 2 0.67 17 3.5E-03
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 0.33 0 0
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		2 0 1 0.25 0 0
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		9 11 2 0.20 1 4.4E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		2 3 1 0.25 2 8.8E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.2E-02 0 0
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		3 0 1 0.20 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		9 0 1 9.1E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		2 0 1 0.25 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 28 3 0.20 2 8.7E-04
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		5 0 1 0.14 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 5.9E-02 0 0
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		5 150 1 0.14 2 8.3E-04