ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75
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: rs707284
rs707284 		0.807 0.080 2 211974321 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 0.500 2 2017 2017
dbSNP: rs11693031
rs11693031 		1.000 0.040 2 211813206 intron variant A/G;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11693031
rs11693031 		1.000 0.040 2 211813206 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12694277
rs12694277 		2 212324070 intron variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1452020002
rs1452020002 		1.000 0.080 2 211947467 missense variant G/C;T snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1484791833
rs1484791833 		0.925 0.080 2 211713624 missense variant G/A snv
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2018 2018
dbSNP: rs1484791833
rs1484791833 		0.925 0.080 2 211713624 missense variant G/A snv
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1595064
rs1595064 		0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1595064
rs1595064 		0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs16845990
rs16845990 		0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16845990
rs16845990 		0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16845990
rs16845990 		0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16845990
rs16845990 		0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs16847082
rs16847082 		0.925 0.080 2 211853945 intron variant T/A;C snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs16847082
rs16847082 		0.925 0.080 2 211853945 intron variant T/A;C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1879532
rs1879532 		1.000 0.040 2 211574587 intron variant T/A;C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs202247795
rs202247795 		1.000 0.040 2 211702102 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs2178575
rs2178575 		1.000 0.120 2 212527042 intron variant G/A;T snv
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: rs267599192
rs267599192 		1.000 0.040 2 211673250 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs267599193
rs267599193 		1.000 0.040 2 211713583 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs4672619
rs4672619 		0.882 0.160 2 211592470 intron variant C/A;G snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2018 2018