ERBB3, erb-b2 receptor tyrosine kinase 3, 2065

N. diseases: 318; N. variants: 16
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: rs1057519893
rs1057519893 		0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs10783779
rs10783779 		12 56098096 intron variant T/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11171739
rs11171739 		0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2271194
rs2271194 		1.000 0.120 12 56083910 splice region variant A/T snv 0.63 0.53
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239 		0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3202538
rs3202538 		0.925 0.080 12 56102447 3 prime UTR variant G/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017