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: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		1 127 1 0.50 14 0.11
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		1 31 1 0.50 14 0.38
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1 15 1 0.50 14 0.67
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		1 1 1 0.50 1 5.0E-02
CUI: C0239803
Disease: Red hair
Red hair 		1 0 1 0.50 0 0
CUI: C0271618
Disease: Delayed female puberty
Delayed female puberty 		1 0 1 0.50 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		1 1 1 0.50 1 5.0E-02
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		1 1 1 0.50 1 5.0E-02
CUI: C1842881
Disease: Dilated aortic root
Dilated aortic root 		1 0 1 0.50 0 0
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		1 0 1 0.50 0 0
CUI: C4016285
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 		1 0 1 0.50 0 0
CUI: C4016286
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE 		1 2 1 0.50 1 4.8E-02
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		1 0 1 0.50 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 0.50 0 0
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		1 35 1 0.50 12 0.28
CUI: C4302356
Disease: Primary low grade serous adenocarcinoma of ovary
Primary low grade serous adenocarcinoma of ovary 		1 0 1 0.50 0 0
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		2 0 1 0.33 0 0
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 2 0.33 3 7.1E-02
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		2 0 1 0.33 0 0
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		2 0 1 0.33 0 0
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		2 5 1 0.33 1 4.2E-02
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		2 0 1 0.33 0 0
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		2 16 1 0.33 9 0.33
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		2 0 1 0.33 0 0
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		2 23 1 0.33 14 0.48