MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
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.
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 2 78 0.700 None 1.000 57 78 1994 2017
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
disease Disease or Syndrome 2 6 0.100 None 0 3
CUI: C0036503
Disease: Sebaceous Gland Neoplasms
Sebaceous Gland Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C0153619
Disease: Malignant neoplasm of ureter
Malignant neoplasm of ureter
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC
disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C1834728
Disease: Malignant genitourinary tract tumor
Malignant genitourinary tract tumor
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.100 None 0
CUI: C0334092
Disease: Hamartomatous polyp
Hamartomatous polyp
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C0600079
Disease: Ureter Carcinoma
Ureter Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C1305409
Disease: Atypical adenoma
Atypical adenoma
disease Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 2011 2011
Constitutional Mismatch Repair Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 1 0.340 definitive 1.000 16 1997 2019
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
phenotype Skin and Connective Tissue Diseases Finding 6 12 0.100 None 0
CUI: C3842001
Disease: Adult only
Adult only
phenotype Finding 6 0.300 strong 0
Microsatellite instability-high solid malignant tumor
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2000 2000
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 20 0.570 None 1.000 9 2007 2020
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri
disease Neoplasms Neoplastic Process 9 6 0.010 None 1.000 1 2011 2011
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma
disease Neoplastic Process 9 0.010 None 1.000 1 2019 2019
Familial Atypical Multiple Mole-Melanoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2004 2004
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2011 2011
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri
disease Neoplasms Neoplastic Process 10 6 0.010 None 1.000 1 2011 2011
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma
disease Neoplasms Neoplastic Process 11 6 0.010 None 1.000 1 2015 2015
CUI: C0153425
Disease: Malignant tumor of small intestine
Malignant tumor of small intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 11 1 0.100 None 0 1
CUI: C1263762
Disease: Endocervical adenocarcinoma
Endocervical adenocarcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C1299237
Disease: Endocervical Carcinoma
Endocervical Carcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 14 1 0.010 None 1.000 1 2017 2017