NEDD4, NEDD4 E3 ubiquitin protein ligase, 4734

N. diseases: 101; N. variants: 8
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: rs8032158
rs8032158 		1.000 0.080 15 55902679 intron variant T/A;C snv
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.810 1.000 2 2010 2013
dbSNP: rs1509406
rs1509406 		1.000 0.120 15 55937562 intron variant A/G snv 0.30
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1863758
rs1863758 		15 55858832 intron variant A/G snv 0.63
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1912403
rs1912403 		15 55916735 missense variant T/C snv 7.4E-02 6.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs2271289
rs2271289 		1.000 0.080 15 55924595 non coding transcript exon variant C/T snv 0.33
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2303579
rs2303579 		0.925 0.040 15 55860531 missense variant T/C snv 0.74 0.72
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2303579
rs2303579 		0.925 0.040 15 55860531 missense variant T/C snv 0.74 0.72
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3088077
rs3088077 		0.925 0.040 15 55827379 3 prime UTR variant C/T snv 0.20
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3088077
rs3088077 		0.925 0.040 15 55827379 3 prime UTR variant C/T snv 0.20
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs62043855
rs62043855 		1.000 0.040 15 55915613 missense variant T/A;G snv 0.15
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2019 2019