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: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None 1.000 1 2008 2008
CUI: C0278763
Disease: Adult Immunoblastic Lymphoma
Adult Immunoblastic Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.010 None 1.000 1 2005 2005
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2005 2005
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2012 2012
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.050 None 1.000 5 1997 2019
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2012 2012
CUI: C3842001
Disease: Adult only
Adult only
phenotype Finding 6 0.300 strong 0
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: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None 1.000 1 2005 2005
CUI: C0001816
Disease: Agnosia
Agnosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 17 0.100 None 0
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma
disease Neoplasms Neoplastic Process 61 0.020 None 1.000 2 2003 2006
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 49 2 0.100 None 0
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
disease Neoplasms Neoplastic Process 174 4 0.020 None 1.000 2 2001 2018
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 74 68 0.010 None 1.000 1 1999 1999
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
disease Neoplasms Neoplastic Process 45 1 0.010 None 1.000 1 2006 2006
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 2012 2013
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.120 None 1.000 2 2005 2013
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.030 None 0.667 3 2001 2008
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0349579
Disease: Atypical Endometrial Hyperplasia
Atypical Endometrial Hyperplasia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 32 0.040 None 0.750 4 1999 2006
CUI: C1300347
Disease: Atypical polypoid adenomyoma
Atypical polypoid adenomyoma
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2003 2003
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2008 2008
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
phenotype Skin and Connective Tissue Diseases Finding 6 12 0.100 None 0