MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2015 2019
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.020 None 1.000 2 2016 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2011 2011
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2011 2011
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.010 None 1.000 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2015 2015
CUI: C0745287
Disease: infertility tubal factor
infertility tubal factor 		disease Disease or Syndrome 19 4 0.010 None 1.000 1 2019 2019
CUI: C0852262
Disease: Placental abnormalities (excl neoplasms)
Placental abnormalities (excl neoplasms) 		disease Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2020 2020
CUI: C1333977
Disease: Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis B Virus-Related Hepatocellular Carcinoma 		disease Neoplastic Process 76 8 0.010 None 1.000 1 2018 2018
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord 		disease Disease or Syndrome 13 0.010 None 1.000 1 2014 2014
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.200 None 1.000 1 2015 2015
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.110 None 1.000 1 1 2019 2019
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		phenotype Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 1 2015 2015
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2018 2018
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 1 2015 2015
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 1 2015 2015
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2015 2015
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		disease Disease or Syndrome 14 22 0.010 None 1.000 1 2009 2009
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2015 2015
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia 		disease Disease or Syndrome 198 0.010 None 1.000 1 2017 2017
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		disease Disease or Syndrome 89 4 0.010 None 1.000 1 2019 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2013 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0