MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Source: ALL
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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.978 135 3 1993 2019
CUI: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.100 None 1.000 16 2000 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 15 1995 2019
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.500 definitive 1.000 7 1993 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.060 None 0.667 6 2004 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.040 None 1.000 4 1999 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.040 None 1.000 4 2001 2006
CUI: C4524257
Disease: MSI-low
MSI-low
disease Neoplastic Process 37 2 0.040 None 0.750 4 2004 2012
CUI: C1298180
Disease: Single tumor
Single tumor
phenotype Neoplastic Process 63 4 0.020 None 1.000 2 1997 2018
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma
disease Neoplastic Process 51 1 0.020 None 1.000 2 2003 2010
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.010 None 1.000 1 1999 1999
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2003 2003
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2003 2003
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 2003 2003
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 2003 2003
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2006 2006
CUI: C0813147
Disease: Stage I Endometrial Carcinoma
Stage I Endometrial Carcinoma
disease Neoplastic Process 10 0.010 None 1.000 1 2004 2004
CUI: C1112503
Disease: Tubular adenoma of colon
Tubular adenoma of colon
disease Neoplastic Process 3 0.010 None 1.000 1 2002 2002
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
disease Neoplastic Process 49 1 0.010 None 1.000 1 1999 1999
Treatment related acute myeloid leukaemia
disease Neoplastic Process 65 4 0.010 None 1.000 1 2003 2003
CUI: C1711192
Disease: Sporadic Gastric Adenocarcinoma
Sporadic Gastric Adenocarcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 1997 1997
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC
disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7
disease Neoplastic Process 48 3 0.010 None 1.000 1 2004 2004
Intraductal papillary mucinous neoplasm
disease Neoplastic Process 50 2 0.010 None 1.000 1 2009 2009