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: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2004 2018
dbSNP: rs225010
rs225010 		1.000 0.200 14 80205936 intron variant C/T snv 0.51
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs225010
rs225010 		1.000 0.200 14 80205936 intron variant C/T snv 0.51
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012 		1.000 0.200 14 80204392 intron variant A/C;G snv 0.51
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012 		1.000 0.200 14 80204392 intron variant A/C;G snv 0.51
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.833 6 2005 2016
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.030 0.667 3 2007 2017
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2007 2018
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 < 0.001 2 2007 2012
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2018
dbSNP: rs1158536632
rs1158536632 		0.925 0.080 14 80211468 missense variant C/T snv 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.020 1.000 2 2008 2011
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs12885300
rs12885300 		0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs225011
rs225011 		0.925 0.120 14 80205865 intron variant T/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs225011
rs225011 		0.925 0.120 14 80205865 intron variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs225015
rs225015 		0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs225015
rs225015 		0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.050 1.000 5 2013 2019
dbSNP: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		Musculoskeletal Diseases 0.020 < 0.001 2 2013 2016