CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 1 0.100 None 0 1
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine 		phenotype Digestive System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 11 0.700 None 1.000 0 11 2001 2018
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype Finding 1 7 0.100 None 0 7
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 1 0.100 None 0 1
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 2 157 0.700 None 0.963 9 4 1999 2017
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		group Neoplasms Neoplastic Process 2 4 0.100 None 0 1
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 4 0.100 None 0 1
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2 3 0.100 None 0 2
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2 3 0.200 None 0.750 0 1 2003 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3 5 0.160 None 0.833 0 1 2000 2018
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype Finding 3 8 0.100 None 0 1
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 3 3 0.100 None 0 1
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 4 6 0.100 None 0 1
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 4 20 0.740 None 1.000 0 9 2002 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 4 4 0.130 None 1.000 0 1 2015 2019
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		phenotype Finding 4 6 0.100 None 0 2
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 48 0.100 None 1.000 22 1 1999 2014
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 5 26 0.100 None 0 1
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 5 6 0.100 None 0 1
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		phenotype Neoplasms Finding 5 6 0.100 None 0 2