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: C0007097
Disease: Carcinoma
Carcinoma 		0 15 0 0 1 1.6E-04
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0 5 0 0 1 1.6E-04
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		0 1 0 0 1 1.6E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0 10 0 0 1 1.6E-04
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0 104 0 0 4 6.2E-04
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		0 1 0 0 1 1.6E-04
CUI: C4017330
Disease: LIPOMA, SOMATIC
LIPOMA, SOMATIC 		0 1 0 0 1 1.6E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1 123 1 1.5E-02 8 1.2E-03
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1 2 1 1.5E-02 2 3.1E-04
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		1 10 1 1.5E-02 6 9.4E-04
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1 162 1 1.5E-02 41 6.3E-03
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0021933
Disease: Intussusception
Intussusception 		1 0 1 1.5E-02 0 0
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 1.5E-02 0 0
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		1 127 1 1.5E-02 44 6.8E-03
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		1 31 1 1.5E-02 11 1.7E-03
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1 15 1 1.5E-02 6 9.4E-04
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		1 1 1 1.5E-02 1 1.6E-04
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		1 0 1 1.5E-02 0 0