DIO2, iodothyronine deiodinase 2, 1734

N. diseases: 79; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7140952
rs7140952 		0.925 0.080 14 80201929 3 prime UTR variant C/T snv 0.13
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7140952
rs7140952 		0.925 0.080 14 80201929 3 prime UTR variant C/T snv 0.13
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs225017
rs225017 		0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs225017
rs225017 		0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1158536632
rs1158536632 		0.925 0.080 14 80211468 missense variant C/T snv 1.4E-05
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0349218
Disease: Recurrent depressive disorder
Recurrent depressive disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2018 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225015
rs225015 		0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225015
rs225015 		0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs225015
rs225015 		0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2267873
rs2267873 		0.925 0.160 14 80207471 intron variant A/G snv 0.20
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2267873
rs2267873 		0.925 0.160 14 80207471 intron variant A/G snv 0.20
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2019 2019