PKNOX2, PBX/knotted 1 homeobox 2, 63876

N. diseases: 19; N. variants: 6
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: rs750338
rs750338 		1.000 0.080 11 125302697 intron variant A/G snv 0.30
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.810 1.000 1 2011 2011
dbSNP: rs12284594
rs12284594 		1.000 0.080 11 125309957 intron variant A/G;T snv
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs12284594
rs12284594 		1.000 0.080 11 125309957 intron variant A/G;T snv
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs138466039
rs138466039 		1.000 0.080 11 125184897 intron variant C/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs648090
rs648090 		1.000 0.120 11 125201267 intron variant A/G snv 0.71
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7107770
rs7107770 		1.000 0.040 11 125230542 intron variant G/A;C;T snv
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs750338
rs750338 		1.000 0.080 11 125302697 intron variant A/G snv 0.30
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs750338
rs750338 		1.000 0.080 11 125302697 intron variant A/G snv 0.30
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2011 2011
dbSNP: rs2059614
rs2059614 		1.000 11 125389528 intron variant A/G snv 5.3E-02
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2015 2015