MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, 4522
N. diseases: 121; N. variants: 20
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
disease | Disease or Syndrome | 1 | 5 | 0.600 | None | 1.000 | 3 | 5 | 2011 | 2017 | |||||
|
disease | Disease or Syndrome | 1 | 0.020 | None | 1.000 | 2 | 2017 | 2018 | |||||||
|
disease | Congenital Abnormality | 51 | 45 | 0.020 | None | 1.000 | 2 | 1 | 2012 | 2012 | |||||
|
phenotype | Temporal Concept | 48 | 74 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
phenotype | Diagnostic Procedure | 12 | 24 | 0.100 | None | 1.000 | 1 | 1 | 2009 | 2009 | |||||
|
phenotype | Laboratory Procedure | 338 | 456 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
group | Congenital Abnormality | 126 | 6 | 0.010 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Neoplastic Process | 51 | 18 | 0.010 | None | 1.000 | 1 | 2013 | 2013 | ||||||
|
disease | Neoplastic Process | 860 | 154 | 0.010 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
disease | Congenital Abnormality | 99 | 50 | 0.010 | None | 1.000 | 1 | 1 | 2008 | 2008 | |||||
|
phenotype | Neoplastic Process | 6626 | 169 | 0.010 | None | < 0.001 | 1 | 2015 | 2015 | ||||||
|
disease | Congenital Abnormality | 3 | 5 | 0.010 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 171 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 75 | 5 | 0.100 | None | 0 | |||||||||
|
disease | Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 1478 | 271 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
phenotype | Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 1461 | 269 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 1576 | 1178 | 0.010 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 2322 | 1085 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 445 | 293 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | |||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 586 | 90 | 0.010 | None | 1.000 | 1 | 1 | 2008 | 2008 | ||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 1098 | 73 | 0.030 | None | 1.000 | 3 | 1 | 2016 | 2018 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 80 | 16 | 0.010 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 406 | 58 | 0.020 | None | 1.000 | 2 | 1 | 2009 | 2013 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | Congenital Abnormality | 611 | 158 | 0.010 | None | 1.000 | 1 | 2008 | 2008 |