MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.020 None 1.000 2 2007 2009
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C3887875
Disease: Visual field defects
Visual field defects
group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis
group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.010 None 1.000 1 2003 2003
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2017 2017
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.060 None 1.000 6 2006 2019
CUI: C0042076
Disease: Urologic Neoplasms
Urologic Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 28 4 0.100 None 0
CUI: C0041955
Disease: Ureteral Neoplasms
Ureteral Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.010 None < 0.001 1 2013 2013
Undifferentiated (Embryonal) Sarcoma
disease Neoplastic Process 35 4 0.010 None 1.000 1 2015 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.090 None 1.000 9 1 1997 2009
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.800 definitive 0.965 86 16 1994 2020
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.010 None 1.000 1 2019 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 0.812 16 1998 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.857 14 2002 2019
CUI: C0334307
Disease: Tubulovillous adenoma
Tubulovillous adenoma
disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2006 2006
tubular adenomas and adenocarcinomas
disease Neoplastic Process 2 0.010 None 1.000 1 2005 2005
CUI: C1112503
Disease: Tubular adenoma of colon
Tubular adenoma of colon
disease Neoplastic Process 3 0.010 None 1.000 1 2002 2002
CUI: C0334292
Disease: Tubular adenoma
Tubular adenoma
disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2017 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric 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 Disease or Syndrome 424 28 0.010 None 1.000 1 1993 1993
CUI: C1864801
Disease: TRICHILEMMAL CYST 1
TRICHILEMMAL CYST 1
disease Neoplasms Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C2266788
Disease: Trichilemmal cyst
Trichilemmal cyst
disease Neoplasms Disease or Syndrome 8 2 0.010 None 1.000 1 2005 2005
CUI: C0040820
Disease: Trematode Infections
Trematode Infections
group Infections Disease or Syndrome 12 0.010 None < 0.001 1 2003 2003
CUI: C2825306
Disease: Treatment related leukaemia
Treatment related leukaemia
disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2003 2003
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma
disease Neoplasms Neoplastic Process 90 2 0.010 None 1.000 1 2016 2016