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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 2 0.50 6 3.5E-02
CUI: C4288013
Disease: Vulvar Adenocarcinoma of Mammary Gland Type
Vulvar Adenocarcinoma of Mammary Gland Type 		2 2 2 0.50 1 4.8E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		5 46 2 0.29 4 6.5E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 0 1 0.25 0 0
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		1 1 1 0.25 1 5.0E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 10 2 0.25 2 7.1E-02
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		1 7 1 0.25 7 0.35
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		1 1 1 0.25 1 5.0E-02
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		1 0 1 0.25 0 0
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		1 0 1 0.25 0 0
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		1 1 1 0.25 1 5.0E-02
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		1 0 1 0.25 0 0
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		1 1 1 0.25 1 5.0E-02
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		1 0 1 0.25 0 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		1 0 1 0.25 0 0
CUI: C1261473
Disease: Sarcoma
Sarcoma 		6 6 2 0.25 1 4.0E-02
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		1 0 1 0.25 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		1 0 1 0.25 0 0
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		1 39 1 0.25 6 0.11
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		1 11 1 0.25 8 0.35
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1 21 1 0.25 1 2.5E-02
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		1 7 1 0.25 3 0.12
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		1 0 1 0.25 0 0
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		1 6 1 0.25 6 0.30
CUI: C1859973
Disease: Adrenocortical Carcinoma, Pediatric
Adrenocortical Carcinoma, Pediatric 		1 0 1 0.25 0 0