IDE, insulin degrading enzyme, 3416

N. diseases: 71; N. variants: 19
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: rs139550538
rs139550538 		0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538 		0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538 		0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538 		0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2016 2016
dbSNP: rs2421943
rs2421943 		1.000 0.080 10 92552058 intron 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 0.700 1.000 1 2007 2007
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs2251101
rs2251101 		0.882 0.160 10 92451547 downstream gene variant C/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2011 2015
dbSNP: rs2251101
rs2251101 		0.882 0.160 10 92451547 downstream gene variant C/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs4646953
rs4646953 		0.882 0.160 10 92574198 upstream gene variant A/G snv 0.17
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2011 2015
dbSNP: rs11187007
rs11187007 		1.000 0.080 10 92454823 intron variant A/C;G snv
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 2010 2010
dbSNP: rs11187033
rs11187033 		1.000 0.040 10 92502602 intron variant T/A snv 0.28
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1219680453
rs1219680453 		1.000 0.080 10 92573955 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs139550538
rs139550538 		0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1484303631
rs1484303631 		1.000 0.080 10 92573999 stop gained C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1832196
rs1832196 		1.000 0.080 10 92508577 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1887922
rs1887922 		0.851 0.240 10 92464408 intron variant C/T snv 0.85
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1999764
rs1999764 		1.000 0.080 10 92560382 intron variant T/C snv 0.10
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2149632
rs2149632 		1.000 0.080 10 92472490 intron variant T/C snv 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2149632
rs2149632 		1.000 0.080 10 92472490 intron variant T/C snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2149632
rs2149632 		1.000 0.080 10 92472490 intron variant T/C snv 0.28
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 2009 2009
dbSNP: rs2251101
rs2251101 		0.882 0.160 10 92451547 downstream gene variant C/A;T snv
CUI: C0022638
Disease: Ketosis
Ketosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011