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: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		6 98 4 0.40 38 0.20
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		2 9 2 0.25 5 3.8E-02
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		3 33 2 0.22 32 0.25
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		1 1 1 0.12 1 7.8E-03
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1 162 1 0.12 8 2.8E-02
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		1 127 1 0.12 7 2.8E-02
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		1 31 1 0.12 8 5.3E-02
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1 15 1 0.12 8 5.9E-02
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		1 1 1 0.12 1 7.8E-03
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		1 0 1 0.12 0 0
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		1 89 1 0.12 1 4.6E-03
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		1 0 1 0.12 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		1 1 1 0.12 1 7.8E-03
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina 		1 0 1 0.12 0 0
CUI: C1301357
Disease: Acute Leukemia of Ambiguous Lineage
Acute Leukemia of Ambiguous Lineage 		1 0 1 0.12 0 0
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		1 0 1 0.12 0 0
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		1 0 1 0.12 0 0
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		1 1 1 0.12 1 7.8E-03
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		1 53 1 0.12 6 3.4E-02
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		1 0 1 0.12 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		1 67 1 0.12 56 0.40
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		1 41 1 0.12 29 0.21
CUI: C3276074
Disease: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS 		1 2 1 0.12 2 1.6E-02
CUI: C3532243
Disease: Fatal infantile mitochondrial cardiomyopathy
Fatal infantile mitochondrial cardiomyopathy 		1 0 1 0.12 0 0
CUI: C4016285
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 		1 0 1 0.12 0 0