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.
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.130 None 1.000 323 309 1990 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.933 313 13 1993 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.955 177 13 1985 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.945 145 12 1985 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.978 135 3 1993 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.200 None 0.981 54 8 1988 2019
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.400 None 0.898 49 1 1994 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.100 None 0.957 47 3 1994 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.872 39 2 1994 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.200 None 1.000 31 2 1998 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.400 None 1.000 31 1996 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.200 None 0.931 29 5 2000 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.200 None 0.931 29 5 2000 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.100 None 1.000 19 2 1994 2019
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.100 None 1.000 19 1996 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.100 None 1.000 18 4 2000 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.100 None 1.000 18 2000 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.100 None 0.941 17 2000 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.700 None 1.000 17 5 1994 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 0.941 17 2000 2019
CUI: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.100 None 1.000 16 2000 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.400 None 1.000 15 7 1998 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.100 None 1.000 15 2 1998 2020
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.100 None 1.000 15 2 1993 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 15 1995 2019