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 4 3.7E-02
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma 		0 3 0 0 1 1.0E-02
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0 8 0 0 1 9.5E-03
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 3.8E-02 1 1.0E-02
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 3.8E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 3.8E-02 0 0
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		1 0 1 3.8E-02 0 0
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1 162 1 3.8E-02 1 3.9E-03
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		1 0 1 3.8E-02 0 0
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		1 0 1 3.8E-02 0 0
CUI: C0021933
Disease: Intussusception
Intussusception 		1 0 1 3.8E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 3.8E-02 0 0
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		1 127 1 3.8E-02 2 9.0E-03
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		1 31 1 3.8E-02 2 1.6E-02
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1 15 1 3.8E-02 2 1.8E-02
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		1 2 1 3.8E-02 2 2.0E-02
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		1 0 1 3.8E-02 0 0
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		1 2 1 3.8E-02 2 2.0E-02
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		1 0 1 3.8E-02 0 0
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1 74 1 3.8E-02 2 1.2E-02
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		1 0 1 3.8E-02 0 0
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 0 1 3.8E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1 0 1 3.8E-02 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 3.8E-02 0 0
CUI: C0039621
Disease: Tetany
Tetany 		1 0 1 3.8E-02 0 0