CAT, catalase, 847

N. diseases: 794; N. variants: 14
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: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1402522059
rs1402522059 		1.000 0.080 11 34449312 missense variant C/G;T snv 4.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 1997 1997
dbSNP: rs1428168076
rs1428168076 		1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs35677492
rs35677492 		0.925 0.040 11 34471409 synonymous variant G/A snv 5.0E-04 2.7E-04
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs35677492
rs35677492 		0.925 0.040 11 34471409 synonymous variant G/A snv 5.0E-04 2.7E-04
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4756146
rs4756146 		0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4756146
rs4756146 		0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs511895
rs511895 		1.000 0.160 11 34466182 intron variant T/C snv 0.70
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs564250
rs564250 		1.000 0.080 11 34437314 upstream gene variant T/A;C snv
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs769214
rs769214 		0.925 0.160 11 34438170 upstream gene variant G/A snv 0.61
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs769214
rs769214 		0.925 0.160 11 34438170 upstream gene variant G/A snv 0.61
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
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: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015