EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
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: rs1177684571
rs1177684571 		1.000 0.080 4 109976199 missense variant G/C;T snv 4.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11568972
rs11568972 		4 109967851 intron variant A/C snv 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1860129
rs1860129 		4 109965187 intron variant G/C snv 0.55
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11568943
rs11568943 		0.925 0.080 4 109961965 missense variant G/A snv 9.8E-02 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1436919825
rs1436919825 		0.882 0.080 4 109976175 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2012 2014
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2012 2019
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3756261
rs3756261 		0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs2237051
rs2237051 		0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0041834
Disease: Erythema
Erythema 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1185124983
rs1185124983 		1.000 0.080 4 109960879 missense variant G/A snv 4.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs771293553
rs771293553 		1.000 0.120 4 109913378 missense variant T/A;C snv
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders 0.010 1.000 1 2007 2007